Late Breaking

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare autosomal recessive genetic disease. Simple virilizing (SV) - CAH in boys is characterised by accelerated longitudinal growth, penile growth, pubic and axillary hair growth and aromatic body odor. More often these patients have advanced bone age (BA) which limits their available time to grow and leads to near adult height below the average of the normal population. Longstanding and...

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hrp0098p3-272 | Late Breaking | ESPE2024

Pseudo-hyperkalaemia in Congenital Adrenal Hyperplasia – A Challenge for Clinicians

Gunasekara Buddhi , Wadey Hannah , Aitkenhead Helen , Gunasekara Antonia

Background: Hyperkalaemia, defined as potassium levels above 5.5 mmol/L, is a potentially life-threatening condition commonly seen in congenital adrenal hyperplasia (CAH). Pseudohyperkalaemia is a false elevation of potassium observed in vitro, caused by potassium moving out of cells (erythrocytes, leukocytes, or platelets) during or after blood sampling. This is often linked to high platelet counts (>450 × 10^9/L), due to potassium release from activ...

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hrp0098p3-273 | Late Breaking | ESPE2024

A rare cause of acute salt wasting crisis in infancy: Case report of Type 1 aldosterone synthase deficiency with CYP11B2 mutation

Yee Chan Ka , Ming Wong Lap

Background: Aldosterone is a steroid hormone synthesized in the zona glomerulosa of the adrenal cortex. It is important for homeostasis of plasma sodium and potassium levels. Isolated aldosterone synthase deficiency can result in acute salt-losing crisis, severe hyperkalemia, metabolic acidosis, and failure to thrive.Case presentation: An 18-day-old boy, born to consanguineous parents, presented to our hospital for failu...

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hrp0098p3-274 | Late Breaking | ESPE2024

Iatrogenic cushing's syndrome in infants: Clinical and evolutionary aspects

Smouni Meryem , Amhajar Samah , Filali Imane , Imane Zineb

Introduction: Cushing's syndrome is a rare but serious condition in children. It is most often of iatrogenic origin, resulting from the prolonged use of glucocorticoids. It is responsible for increased cardiovascular mortality, highlighting the importance of recognizing and treating it. Cushing's syndrome due to topical application is a very rare cause, with only a few cases reported in the literature. We present here three cases of iatrogenic Cushin...

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hrp0098p3-275 | Late Breaking | ESPE2024

Effects of gonadotropin-releasing hormone analogue (GnRHa) combined with recombinant growth hormone (rhGH) on growth of girls with central precocious puberty or early and fast puberty

Qiao Yu , Li Guimei

Background: Girls diagnosed with central precocious puberty (CPP) or early and fast puberty (EFP) tend to exhibit temporarily rapid acceleration in growth due to increased sex hormone production or exposure, leading to premature closure of the growth plate and a shorter final adult height (FAH). Rapid progression of the secondary sexual characteristics in children can also cause poor social adaptability, psychological stress, and emotional disorders. CPP/EFP c...

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hrp0098p3-276 | Late Breaking | ESPE2024

11ß -Hydroxylase deficiency presenting with precocious puberty and gigantism: case report

Sahli Hassiba , kherra Sakina , Bellouti Sihem , Sifour Latifa , Chikh Amina , Zeroual Zoulikha

Introduction: Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by an inherited defect in cortisol biosynthesis, 90-99% of CAH cases occur due to 21-hydroxylase deficiency, while 11β-hydroxylase deficiency (11βOHD) accounts for only 0.2-8% of cases. In this study, we report a case of congenital adrenal hyperplasia due to 11βOHD in a two-year-old boy who presented with pseudo precocious puberty and tall stat...

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hrp0098p3-277 | Late Breaking | ESPE2024

Study on the mechanism of CWC27 gene variation leading to chondrodysplasia

Sun Yunteng , Chen Hong , Cai Binbin , Chen Ruimin

Background and Objective: The spliceosome-associated protein CWC27 (CWC27) is the main component of the spliceosome and plays an important role in the post-transcriptional modification of mRNA. Retinitis pigmentosa with or without skeletal abnormalities (RPSKA) is an autosomal recessive syndrome caused by variation in the CWC27 gene. The main clinical manifestations of RPSKA include short stature, retinitis pigmentosa, craniofacial deformity, and inte...

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hrp0098p3-278 | Late Breaking | ESPE2024

Haploinsufficiency of CTCF gene results in chondrodysplasia

Chen Hong , Chen Ruimin , Sun Yunteng , Su Yiqun , Cai Binbin

Background: CCCTC-binding factor (coded by CTCF gene, OMIM *604167), as a transcription insulation protein, plays a key role for regulating the temporal and spatial transcription of genes related to growth in mammals and topologically associated chromatin loop formation. Pathogenic variants in CTCF gene are associated with mental retardation, autosomal dominant 21 (MRD21, MIM #615502) with short stature, mild facial deformities, and mental re...

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hrp0098p3-279 | Late Breaking | ESPE2024

Nutritional rehabilitation in children with idiopathic stunted growth: is it a recovery pattern of growth?

Hamdane Chaymae , Yagoubi Latifa , Benyahya Nadia , Rhouzali Khawla , Bakmizi Hanae , Rouf Siham , Latrech Hanane

Introduction: Idiopathic short stature (ISS) is widely recognized as a cause of short stature and poor growth and is arbitrarily defined as a height < -2 SDS without an identified etiology. It is commonly known, through several studies, that malnutrition is considered to be one of the main factors responsible for growth disorders in children and adolescents. We aim ed to evaluate growth outcome by reviewing nutritional influences in patients followed up for...

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hrp0098p3-280 | Late Breaking | ESPE2024

Skeletal Manifestations in Children with Nephropathic Cystinosis- Single Center Experience

Arafa Mohamed Hussein Aly Noha , M Atia Fatma , Helmy Rasha , Selim Mahmoud Rasha , Shalata Dina , Seif Hadeel , A Soliman Neveen

Introduction: Nephropathic cystinosis is a rare inherited lysosomal storage disorder due to mutation in CTNS gene. Cystinosis metabolic bone disease (CMBD) represents an evident multifactorial problem in those patients necessitating multidisciplinary team approach.Methods: Prospectively eighteen patients with infantile nephropathic cystinosis had been recruited from Cystinosis Clinic, Children's Hospital, Cairo Univ...

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hrp0098p3-281 | Late Breaking | ESPE2024

Cleidocranial dysplasia associated with gh deficiency by auxological criterion: case report

Fernando Arrais Ricardo , Luiza Assunção Dantas Ana , Queiroz Dias do Nascimento Letícia , Saraiva Santos Silva Marina

Cleidocranial dysplasia (CCD) is a rare genetic condition affecting bone and cartilage growth, primarily transmitted in an autosomal dominant manner. Characterised by the triad of clavicular hypoplasia, delayed closure of cranial sutures, and dental anomalies, CCD was first described in 1765, with its hereditary nature established in 1898. The condition is associated with mutations in the RUNX2 gene, which is important in osteoblastic differentiation. With a prevalence of 1:1,...

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hrp0098p3-282 | Late Breaking | ESPE2024

Fibrous dysplasia of the bone, a disabling complication of McCune Albright syndrome: a case report

Zerguine Halima , Khenane Nacer , Hadef Djohra

Introduction: McCune-Albright syndrome (MAS) is a rare sporadic condition defined by the classic triad of fibrous dysplasia of bone, café au lait skin macules, and hyperfunctioning endocrinopathies. The molecular basis of MAS has been ascribed to the post-zygotic somatic gain-of-function mutations in the GNAS gene, which encodes the alpha subunit of G proteins, leading to constitutive activation of several G Protein-Coupled Receptors (GPCRs). Our aimis ...

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hrp0098p3-283 | Late Breaking | ESPE2024

Bone growth deficits correlated with visceral fat mass volume in adolescent girls with severe and extreme obesity

Boyadzhiev Veselin , Iotova Violeta , Varbanova Boriana

Objectives: Previous studies have shown an increasing percentage of obese children with fractures. Visceral fat mass (VFM) volume and metabolic disorders have already been recognized as negative predictors for bone mineral density (BMD) in adolescents.Methods: Study participants included 41 adolescent girls aged 14-17 who were divided into two groups according to body mass index (BMI) percentile (P) - group 1: 8 overweig...

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hrp0098p3-284 | Late Breaking | ESPE2024

Dramatic deterioration of subclinical hyperparathyroidism in children and adolescents during the post-COVID-19 period

Loutsou Maria , Dermitzaki Eleni , Christopoulos Panayiotis , N Michoula Aspasia , Mastorakos George , Diamantopoulos Stavros , N Grivea Ioanna , T Papadimitriou Dimitrios

Vitamin D is a steroid hormone, essential for the immune system and bone health. Given that sun exposure is meant to provide at least 80% of daily vitamin D requirements, the COVID-19 pandemic is likely to have a considerable influence on calcium metabolism We retrieved anonymized data on calcium metabolism parameters assessing the occurrence of subclinical hyperparathyroidism – subclinical nutritional rickets (PTH ≥ 45 pg/ml with normal serum Ca ≤ 10.5 mg/dl) in c...

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hrp0098p3-285 | Late Breaking | ESPE2024

To Study The Risk Factors for Type 1 Diabetes Mellitus Among Children and Adolescents in a Tertiary Care Hospital

Naseem Aamir , Arshad Kashan , Aftab Sommayya

Objective: to determine the association of various genetic and environmental risk factors with T1DMStudy design: a case control study Place and duration of study: this study was conducted at University of Child Health Sciences, the Children’s hospital, Lahore from mm/yy to mm/yyMethodology: The total study population consisted of two groups, that is, cases and controls. Cases...

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hrp0098p3-286 | Late Breaking | ESPE2024

Severe hypertriglyceridemia: A rare but serious complication of diabetic ketoacidosis in children

Ould Mohand Ouamer , Zeroual Zoulikha , Mekki Azzedine

Introduction: Ketoacidosis is an acute metabolic complication often indicative of diabetes in children. It can be severe and life-threatening, especially when complicated by major hypertriglyceridemia (HTg). This association is rare in pediatrics but should not be overlooked.Observation: A 8-year-old girl admitted for treatment of severe diabetic ketoacidosis (DKA). The biological assessment, apart from the diagnostic cr...

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hrp0098p3-287 | Late Breaking | ESPE2024

ABCC8 gene mutations: two mirror reflections

Ferreira Madalena , Yang Tong , Câmara Beatriz , Cabral Mafalda , Simões Anabela , Monteiro Arminda , Lopes Lurdes , Galhardo Júlia

Introduction: The ABCC8 gene encodes the SUR1 subunit of the ATP-sensitive potassium channel (K-ATP) in pancreatic beta cells, a key pathway in insulin secretion. Mutations in this gene are associated with neonatal diabetes (ND), and congenital hyperinsulinism (CHI).Description: Cases 1 and 2 Two male monozygotic twins, with no significant medical history, developed persistent non acidotic ketotic hyperg...

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hrp0098p3-288 | Late Breaking | ESPE2024

Improving Diagnosis and Management for Type 1 Diabetes Mellitus (T1DM) among Children and Adolescents, through Introduction of First-ever T1DM Management Guidelines in Kenya

Wamalwa Phoebe , Kihoto Rosemary , Njiri Patricia , Mukui Antony , Cheruiyot Caroline

Introduction: Type 1 diabetes mellitus (T1DM) is a common endocrine disorder among children and adolescents worldwide. Reports indicate a rising trend of T1DM in the past decades. However, data on T1DM in Sub-Saharan Africa, particularly Kenya, is limited. It is estimated that 127,000 children live with T1DM in Kenya, but only 5,000 are on treatment. This project aims to improve early diagnosis and appropriate management of T1DM in children and adolescents thr...

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hrp0098p3-289 | Late Breaking | ESPE2024

Three cases of neonatal diabetes mellitus with different clinical courses

Wada Yasunori , Takahashi Akio , Kondo Daiki , Shimodate Ai , Ishikawa Ken , Chida Yutarou , Akasaka Manami

Background and Purpose: Neonatal diabetes mellitus (NDM) is characterized by severe hyperglycaemia and is usually diagnosed in the first six months of life. Genetic diagnosis helps distinguish among its different causes and between transient and permanent forms, and the diagnosis has repercussions for the therapeutic approach and follow-up. We present three cases of NDM with different genetic abnormalities and different clinical courses....

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hrp0098p3-290 | Late Breaking | ESPE2024

The Impact of Insulin-Induced Lipodystrophy on Glycemic Variability in Pediatric Patients with Type 1 Diabetes

Bakmizi Hanae , Hamdane Chaymae , Salhi Asmae , Rouf Siham , Latrech Hanane

Introduction: Lipodystrophy is the most common dermatological complication in patients with diabetes receiving insulin therapy. Despite the high incidence of lipodystrophy, there are still some difficulties in the practical implementation of prevention recommendations in children and adolescents with type 1 diabetes and their caregivers. This cross-sectional study aims to assess the prevalence of insulin-induced lipodystrophy in a cohort of pediatric patients ...

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hrp0098p3-291 | Late Breaking | ESPE2024

Safety and Metabolic Outcomes of Medtronic Minimed 780G Initiation at Diagnosis in Children and Adolescents

Cem Yilmaz Uğur , Demir Günay , Ozalp Kizilay Deniz , Ozen Samim , Goksen Damla

Aim: This study aims to evaluate the comparative effects of the Minimed 780G system initiated at the time of diagnosis and subcutaneous insulin therapy with continuous glucose monitoring (CGM) systems also initiated at the time of diagnosis on metabolic control and CGM metrics.Methods: We enrolled 8 participants who started using the Minimed780G and 7 participants who started using continuous glucose monitoring (CGM) + m...

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hrp0098p3-292 | Late Breaking | ESPE2024

Is the diary for self-monitoring of blood glucose levels in children with diabetes reliable?

Salih Bendeddouche Ahmed , Boukli-Hacene Chakib , Benasla Djihane , Senouci Djawida , Mazari Wafa , Wahiba Hamidi Fatma , Benchikh Sana , Bouriche Khadidja , Belbachir H.L

Objective: To evaluate the reliability and accuracy of diary entries in relation to glucometer memory in children with T1D and its impact on mid-term glycemic outcomes.Material and method: The SMBG (Self-monitoring blood glucose) in the diaries were compared to the readings from the memory of the glucometer conforming to the international standard ISO 15197 by the ''EMPECS'' software in 2 groups of 10...

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hrp0098p3-293 | Late Breaking | ESPE2024

Impact of Ramadan fasting on young people with diabetes type 1

Salih Bendeddouche Ahmed , Boukli-Hacene Chakib , Benasla Djihane , Benchikh Sana , Senouci Djawida , Wahiba Hamidi Fatma , Mazari Wafa , Bouriche Khadidja , Belbachir H.L

Introduction: Fasting is observed throughout the day when daylight is visible, or as mentioned in the Qur'an: "Eat and drink until the white thread of dawn becomes distinct to you from the black thread of night. Although patients with type 1 diabetes are medically exempt from this obligation, many insist on fasting during Ramadan. To date, healthcare providers have given conflicting advice on the feasibility of fasting during the month of Ramadan.</p...

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hrp0098p3-294 | Late Breaking | ESPE2024

Hepatic glycogenosis in poorly controlled type 1 diabetics: four case reports

Zerguine Halima , Boukhalfa Imène , Bensassia Norhane , Hadef Djohra

Introduction: Mauriac syndrome is a rare condition affecting poorly controlled type 1 diabetics. It results from excessive accumulation of glycogen in the liver following chronic hyperglycaemia. It is manifested by delayed growth and pubertal development, as well as hepatomegaly and hepatic cytolysis. Early detection can improve the prognosis and prevent progression to serious complications. Our aimis to report the diagnostic and evolutionary features of four ...

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hrp0098p3-295 | Late Breaking | ESPE2024

Psychological evaluation in children and adolescents with diabetes mellitus

Ho Kim Seung , Yu Jeesuk

Background: Diabetes mellitus (DM) is a lifelong metabolic disorder requiring insulin injection or oral medication and lifestyle modification. Diabetic children may have psychological problems including depression, anxiety, and stress. The study was aim ed to screen the prevalence of psychologic abnormalities and to find the association of the psychological problems with the patients’ medical conditions.Subjects and Methods...

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hrp0098p3-296 | Late Breaking | ESPE2024

Circumstances of diagnosis of type 2 diabetes in children and young adolescents

Abdelaziz Foued , Selim Nihad , Sehab Hasna , Chebini Yahia , Bouchair Nadira

Introduction: Type 2 diabetes (T2D) is defined as insulin resistance associated with a progressive insulin-secretory defect, its incidence in the pediatric population has increased in parallel with the global increase in obesity.Objectives: The objectives of our study are to determine the frequency of T2DM in our consultation and to identify the diagnostic circumstances as well as the therapeutic modalities.<p class=...

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hrp0098p3-297 | Late Breaking | ESPE2024

Thyroid function and autoimmunity in children type i diabetes

Ourdi Amal , Yagoubi Latifa , Moussa Baraya Alou , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Autoimmune thyroid disease and type 1 diabetes (T1DM) often cooccur, particularly among children. This study aim ed to explore the relationship between type 1 diabetes and autoimmune thyroiditis, examining influencing factors such as gender, age, and duration of diabetes. Additionally, we assessed the glycemic control of all patients involved in the study.Keywords: diabetes- children- auto immune thyroid di...

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hrp0098p3-298 | Late Breaking | ESPE2024

Nutritional deficiencies and endocrine dysfunction in children with type 1 diabetes and celiac disease

Ourdi Amal , Yagoubi Latifa , Moussa Baraya Alou , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Celiac disease (CD) and type 1 diabetes mellitus (T1DM) are autoimmune disorders that frequently coexist in pediatric patients, presenting a unique challenge in clinical management due to their overlapping nutritional deficiencies and potential for endocrine dysfunction. This study describes the clinical characteristics, the nutritional deficiencies and endocrine dysfunctions commonly observed in pediatric patients diagnosed with both CD and T1DM...

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hrp0098p3-299 | Late Breaking | ESPE2024

Coexistence of Autoimmune Disorders in children newly diagnosed with Type 1 Diabetes Mellitus

Selim Nihad , Abdelaziz Foued , Chebini Yahia , Lotfi Boustil Ahmed , Bouchair Nadira

Introduction: Children with type 1 diabetes are at significant risk of developing autoimmune diseases. The international consensus of ISPAD 2022 updated the modalities and pace of screening for the latter. Our goal is to determine the frequency of autoimmune disorders at the time of diagnosis of type 1 diabetes in our department.Materials and Methods: This is a screening for autoimmune thyroiditis and celiac disease in a...

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hrp0098p3-300 | Late Breaking | ESPE2024

Predictive factors of diabetic ketoacidosis in children with newly onset type 1 diabetes: A single center study

Selim Nihad , Abdelaziz Foued , Chebini Yahia , Lotfi Boustil Ahmed , Bouchair Nadira

Introduction: Inaugural diabetic ketoacidosis (DKA) remains a common manifestation of type 1 diabetes (T1D) in children; it is a life-threatening condition due to the risk of cerebral edema and hydroelectrolytic complications.Material and Methods: This is a prospective study over a period of 2 years in the wilaya of Annaba (eastern Algeria) we studied the clinical, biological, therapeutic and progressive characteristics ...

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hrp0098p3-301 | Late Breaking | ESPE2024

Eosinophilic esophagitis and type 1 diabetes: a case report

Houda Bella , Zineb Imane

Introduction: Type 1 diabetes is a chronic autoimmune disease where pancreatic beta cells are destroyed, leading to insufficient insulin production. This condition is often associated with other immune and allergic disorders such as eosinophilic esophagitis, although the exact mechanisms linking these conditions are uncertain.Objectives: This case highlights the complexity of the interaction and potential overlaps betwee...

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hrp0098p3-302 | Late Breaking | ESPE2024

Glycated hemoglobin in diabetes screening: attention to false positives

Sahli Hassiba , Kherra Sakina , Sifour Latifa , Bellouti Sihem , Chikh Amina , Zeroual Zoulikha

Introduction: The glycated hemoglobin (HbA1c) corresponds to the fraction of Hb exposed to non-enzymatic glycation of the N-terminal part of the beta chain of Hb A, in case of elevation of blood sugar. Any change in erythropoiesis and/or lifetime of red blood cells will affect the reliability of HbA1c levels.Case presentation: 12-year-old girl followed for growth homone deficiency, under growth hormone, in whom the annua...

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hrp0098p3-303 | Late Breaking | ESPE2024

Morbid obesity revealing a rare genetic disease

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: Prader-Willi syndrome (PWS) is a rare genetic disease characterized by hypothalamic-pituitary dysfunction associated with major hypotonia during the neonatal period. In childhood, the main problems are the appearance of hyperphagia with the risk of morbid obesity, learning difficulties and behavioral disorders. It concerns one case in 25,000 births.Observation: A boy aged 15, from a non-consanguineous marri...

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hrp0098p3-304 | Late Breaking | ESPE2024

An unusual thrombosis revealing a rare metabolic disease

Ould Mohand Ouamer , Henniche Salahddine , Zeroual Zoulikha , Mekki Azzedine

Introduction: Homocystinuria due to cystathionine-beta-synthase (CBS) deficiency is a rare abnormality of methionine catabolism. The diagnosis is suspected on the increase in plasma total homocysteine (Hcyt) and plasma methionine (Met). The diagnosis is confirmed by looking for bi allelic mutations in the CBS gene.Observation: A 14-year-old boy from a consanguineous marriage with no history. 48 hours before his admission...

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hrp0098p3-305 | Late Breaking | ESPE2024

Gayet-Wernicke encephalopathy: an exceptional pathology in pediatrics

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: Gayet-Wernicke encephalopathy (GWE) is a disorder characterized by acute onset confusion, nystagmus, partial ophthalmoplegia, and ataxia due to thiamine deficiency. The diagnosis is mainly clinical. The disorder may resolve with treatment, persist, or degenerate into Korsakoff psychosis.Observation: A 5-year-old boy, born at full term, referred to our specialist consultation for growth retardation. The clin...

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hrp0098p3-306 | Late Breaking | ESPE2024

A Rare Cause of Early-Onset Obesity: A Novel Variant in LEPR

Çağlar Karataş Murat , Köprülü Özge , Özkan Behzat

Background: Leptin receptor (LEPR) deficiency is a rare genetic disorder that causes severe early-onset obesity. Most children with this condition are obese before the age of one. Leptin and LEPRs are needed for the regulation of appetite and body weight. The most common symptom, present in 96% of patients, is impaired appetite regulation, also known as hyperphagia. Other clinical features include pituitary hormone disorders; such as hypogonadotropic hypogonad...

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hrp0098p3-307 | Late Breaking | ESPE2024

Disorders of the Melanocortin Pathway: From Genetic Inheritance to Clinical Manifestations Based on a Family Case Study

Stepniewska Anna , Szczudlik Ewa , Preizner-Rzucidło Ewelina , Wójcik MAłgorzata , B. Starzyk Jerzy

It is estimated that single-gene mutations are responsible for 3-10% of childhood obesity cases. The most common of these is a mutation in the MC4R gene, occurring in about 1-6% of children and 1% of adults with early-onset severe obesity. We report on of 7-year-old male twins with severe obesity (86% and 75% excess body mass relative to height), starting from the second year of life, along with hyperphagia. The boys were born from a twin pregnancy, PIII, CC, at 37 weeks of ge...

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hrp0098p3-308 | Late Breaking | ESPE2024

Studying the correlation between leptin hormone and body mass index in children with alimentary obesity

Suleymanli Aysel , Sultanova Naila , Ahmadov Gunduz

In recent years, the problem of food consumption among children and adolescents has been rapidly increasing worldwide. The development of obesity in children involves genetic, environmental factors, and lifestyle. One of the main factors in the development of obesity is the necessity to study the correlation between the production of the leptin hormone and the increase in body mass index. It is undeniable that obesity is due to metabolic development. The loss of peptide hormon...

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hrp0098p3-309 | Late Breaking | ESPE2024

Metreleptin dramatically improves the metabolic pattern in a patient with mandibuloacral dysplasia progeroid syndrome (MADaM).

Filomena Madeo Simona , Rita Di Biase Anna , Grippa Mina , Trevisani Viola , Lucaccioni Laura , Calabrese Olga , Iughetti Lorenzo

Background: MADaM syndrome associated with MTX2 gene, is a very rare premature-aging syndrome, caused by a homozygous mutation in the MTX2 gene, which encodes for metaxin-2, a mitochondrial outer membrane protein involved in protein translocation into mitochondria and in TNF-a- induced apoptosis.Case report: Term male newborn, due to a physiological pregnancy [birth weight 4230 g (1.61 SD), length 56 cm (3.24 SD), head c...

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hrp0098p3-310 | Late Breaking | ESPE2024

Efficacy of cinnamon in improving appetite hormones and body fat in adolescents with obesity: A randomized clinical trial

Zurita-Cruz Jessie , Angel Villasis-Keever Miguel

Background: Cinnamon is an alternative therapy for obesity because it contains high concentrations of polyphenols and can decrease the proinflammatory environment.Objective: To determine the effect of cinnamon on serum leptin, ghrelin, and HOMA-IR levels and body adiposity among adolescents with obesity.Methods: Randomized controlled study (Clinical Trials: NCT04476160). We include...

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hrp0098p3-311 | Late Breaking | ESPE2024

An Unusual Presentation of Ornithine Transcarbamylase Deficiency Starting from Hyperthyroidism

Xu Zhenran , Wang Yixue , Chen Weiming , Luo Feihong , Lu Wei

Background: Late-onset ornithine transcarbamylase deficiency (OTCD) is a clinical challenge due to its nonspecific symptoms and the potential for delayed treatment. Hyperammonemia caused by acute metabolism disorder leads to life-threatening encephalopathy. We presented a unique case of OTCD initially manifesting with hyperthyroidism, resulting in refractory hyperammonemia.Case report: A previously healthy 14-year-old Ch...

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hrp0098p3-312 | Late Breaking | ESPE2024

Association between Small for Gestational Age and Mental Disorders: A Systematic Review and Meta-Analysis

Tian Anran , Meng Fucheng , Li Sujuan , Liang Furong , Zhang Cai , Luo Xiaoping

Background: Globally, 16% of infants are born with small-for-gestational-age (SGA) status. The high risks of cognitive and growth deficits in these infants are well reported; however, the potential link between SGA and mental disorders remains understudied.Methods: We conducted a thorough search across the MEDLINE, PubMed, Embase, Web of Science, and APA PsycInfo databases, screening 4672 studies. Observational studies t...

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hrp0098p3-313 | Late Breaking | ESPE2024

Bartter Syndrome Type 2 presenting as transient pseudohypoaldosteronism with hypocalcaemia: a diagnostic dilemma unveiled by genetic testing

Nilmini Ratnayaka Achala , Rangana Dinesh , Thalgahagoda Shenal , Priyawansa Thushara , Suntharesan Jananie

Introduction: Bartter syndrome type 2, is a rare genetically heterogenous disorder characterized by mutations in the KCNJ1 encoding the ROMK channel. This channel ensures adequate luminal potassium availability for the efficient functioning of the Na-K-2Cl co-transporter which is involved in salt reabsorption. Homozygous mutation in KCNJ1 commonly present with transient pseudohypoaldosteronism in the early neonatal period due to loss of ROMK ...

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hrp0098p3-314 | Late Breaking | ESPE2024

MRI Structural and Functional Changes in Children with Growth Hormone Deficiency: A Chronological Review

Hamed Noor , Soliman Ashraf , Alyafei Fawzia , AlHemedi Noora , Alaaraj Nada , Ahmed Shayma , Elawwa Ahmed , Bedair Elsaid

Introduction: This review aims to chronologically summarize MRI findings in children with GHD, correlating these changes with clinical characteristics and GH testing results, and IGF-1 levels.Methods: We reviewed MRI studies conducted from 1991 to 2024, focusing on structural and functional brain changes in children with GHD. Data were extracted from various studies and arranged chronologically.<st...

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hrp0098p3-315 | Late Breaking | ESPE2024

Prevalence and Clinical Associations of Functional Brain Changes in Children with Growth Hormone Deficiency: A Comprehensive Review

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed

This review summarizes the prevalence and degree of functional brain changes detected by fMRI in Growth Hormone Deficiency (GHD) patients and their clinical associations in studies from 2019 to 2024Results: Author Year Prevalence of F...

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hrp0098p3-316 | Late Breaking | ESPE2024

Functional Magnetic Resonance Imaging (fMRI) Findings and Brain Maturity Index in Children with Idiopathic Short Stature and Growth Hormone Deficiency: A Comprehensive Review

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed , Noureldin Abbas

Introduction: Idiopathic short stature (ISS) and growth hormone deficiency (GHD) are conditions that can result in various cognitive and behavioral abnormalities. Functional Magnetic Resonance Imaging (fMRI) is a valuable tool for investigating brain functional connectivity and maturity, offering insights into the neurological underpinnings of ISS and GHD. This review summarizes fMRI findings and their clinical associations, highlighting differences in brain m...

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hrp0098p3-317 | Late Breaking | ESPE2024

Genetic Findings in Growth Hormone Deficiency and Idiopathic Short Stature: A Comprehensive Review

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Hamed Noor , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed

Introduction: This review summarizes the genetic findings in Growth Hormone Deficiency (GHD) versus Idiopathic Short Stature (ISS) and their effects on clinical, radiological, and laboratory outcomes.Methods: A literature review was conducted to identify studies reporting genetic findings related to GHD and ISS.Results: Genetic Findings in GHD: Mutations in GH-1, G...

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hrp0098p3-318 | Late Breaking | ESPE2024

Abstract widthdrwan...

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hrp0098p3-319 | Late Breaking | ESPE2024

Relevance of the hypoglycemic insulin stimulation test in 486 cases

Salih Bendeddouche Ahmed , Chemlal Soundous , Dali Youcef Meryem , Bouriche Khadidja , Senouci Djawida , Mazari Wafa , Benasla Djihane , Benchikh Sana , Rafii Bouheraoua Mohamed , Hamidi Wahiba , Boukli-Hacene Chakib , Belgherbi Chahrazed , Kadouci Hanane , Ouahiani Raouida , Bezzaouya Hadjer , Hamini Rahma , Belbachir H.L

Objective: Determine the relevance of the hypoglycemic insulin stimulation test for GH secretion in the context of the exploration of stature delay in childrenMaterials and Methods: This is a prospective study carried out during the year 2022, of 486 children followed for the management of failure to thrive in the pediatric department of CHU Tlemcen.Inclusion criteria: SR or slowin...

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hrp0098p3-320 | Late Breaking | ESPE2024

Predictive factors of persistent gh deficiency and impact on the final height: a retrospective cohort study

Urbano Flavia , Chiarito Mariangela , Antonio Moscogiuri Luigi , Lattanzio Crescenza , Valerio Giannico Orazio , Annesi Gabriele , Zecchino Clara , Maria Felicia Faienza

Introduction: Most children with isolated GH deficiency (GHD) show a normal GH secretion upon reaching final height (FH). The aimof our study was to identify the predictive factors of persistent GHD and the correlation with the response to recombinant GH (rhGH) therapy in terms of height gain upon reaching FH and compared to target height (TH).Method: In this retrospective study, we evaluated medical records of GHD subje...

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hrp0098p3-321 | Late Breaking | ESPE2024

Etiological aspects of growth failure

Benyahya Nadia , Rhouzali Khawla , Hamdane Chaymae , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Short stature is a common cause of consultation in the endocrinology department, It can be a sign of many affections or hereditary conditions. A clear and rapid diagnostic procedure is imperative for the improvement of height prognosis. The present study sought to evaluate the etiological profile of short stature in childrenPatients and Methods: This is a retrospective study of 292 patients admitted for del...

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hrp0098p3-322 | Late Breaking | ESPE2024

Evaluation of Effects of Using Mobile Treatment Reminder GroConnect on Treatment Compliance and Treatment Response in Patients Receiving Growth Hormone Treatment – Preliminary Results

Çetinkaya Semra , Kandemir Tuğçe , Kızılay Özalp Deniz , Karagüzel Gülay , Türkkahraman Doğa , Eren Erdal , Yıldız Melek , Gül Uslu Nihal , Özen Samim , Ayça Cimbek Emine , Tıkız Ceyhun , Nursoy Hatice , Darendeliler Feyza

It is known that treatment reminder digital applications improve treatment compliance & response & healthcare expenses. Groconnect (mobile reminder) application is used by patients receiving growth hormone treatment (GHt), with its injection alarm/reminder/informative videos. Here, our three month preliminary data from our one-year follow-up study (aims to determine the effects of GroConnect use on treatment compliance & treatment response) is presented.<p clas...

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hrp0098p3-323 | Late Breaking | ESPE2024

Etiology and characteristics of children with short stature in endocrinology department

Azzoug Samira , Achir Samia

Growth retardation is frequent reason of consultation in endocrinology department.Its investigation is guided by weight and statural curves, as well as growth velocity, the breakage of which should alert us to an acquired tumoral pathology.The etiologies are grouped into pathological and common etiologies.We report the results of study of 156 children presenting with short stature in the endocrinology department of Beni Messous where we found that the proportion of boys to gir...

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hrp0098p3-324 | Late Breaking | ESPE2024

Wolf-Hirschhorn syndrome: severe short stature and growth hormone deficiency

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder occurring in approximately 1/50.000 births, with a female predominance. It results from the hemizygous deletion encompassing the 4p16.3 region. The typical craniofacial phenotype is described as a “Greek warrior helmet appearance.”Observation: A 5-year-old boy is brought to the pediatric endocrinology consultation for short stature. He...

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hrp0098p3-325 | Late Breaking | ESPE2024

Prevalence and Degree of Structural Changes in Children with Growth Hormone Deficiency: A Comparative Review with Idiopathic Short Stature

Soliman Ashraf , Alyafei Fawzia , Alaaraj Nada , Ahmed Shayma , AlHemedi Noora , Elawwa Ahmed

Introduction: This chronological review of MRI studies from 1991 to 2024 ims to summarize the prevalence and degree of MRI-detected structural changes in GHD patients and compare these findings with children having Idiopathic Short Stature (ISS).Methods: Data were extracted from various studies, highlighting key changes and comparisons with ISS.Results: Studies consistently show si...

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hrp0098p3-326 | Late Breaking | ESPE2024

Effect of IM Depot Estradiol on Pubertal Progression and Uterine Development in Turner Girls

Anwar Ghada , Saber Rania , Maher Ghada , Mohammed Walaa , Antoune Marise

Introduction: Estrogen treatment is crucial for girls with TS to induce puberty. To mimic normal physical development, initiation of treatment should begin at 11–12 years of age if gonadotropins are elevated, or AMH is low. Different estrogen preparations can be used for this purpose, however only IM depot estradiol is available in Egypt.Aim: To evaluate progression of puberty and uterine development using IM depot...

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hrp0098p3-327 | Late Breaking | ESPE2024

Novel homozygous RTTN variant causing post-natal microcephaly, dwarfism, intellectual delay and micropenis: a case report.

Aiello Francesca , Festa Adalgisa , Palumbo Stefania , Cirillo Mario , Santoro Claudia , Miraglia del Giudice Emanuele , Grandone Anna

Background: Autosomal recessive primary microcephaly (MCPH; “small head syndrome”) is a rare, heterogeneous disease arising from the decreased production of neurons during brain development. 25 genes are implicated in causing MCPH among them the RTTN gene. Here we present the case of a boy from two unrelated parents presenting with a complex phenotype carrying a novel mutation in the RTTN gene.Case Pr...

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hrp0098p3-328 | Late Breaking | ESPE2024

Temple syndrome; genetics and characteristics

Hashim Raihana , Tatton-Brown Katrina , Albanese Assunta

Background: Temple syndrome (TS14) is an imprinting disorder caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat), paternal deletion of 14q32 or an isolated methylation defect of MEG3-DMR. TS14 is characterised by pre- and postnatal growth retardation, hypotonia and feeding difficulties, obesity during childhood and adolescence, short stature, and precocious puberty.Method: This is a comparison of phenotyp...

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hrp0098p3-329 | Late Breaking | ESPE2024

Turner syndrome's malformative and autoimmune profile

Benyahya Nadia , Yagoubi Latifa , El Amel Rania , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Turner syndrome is the most common sex chromosomal abnormality in females, manifested by growth failure and impuberty, that may be associated to visceral and autoimmune disorders which can increase the risk of morbidity and mortality. The aimof this study is to identify the malformative and autoimmune profiles in patients with turner syndrome.Patients and Methods: This is a descriptive study conducted by th...

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hrp0098p3-330 | Late Breaking | ESPE2024

Phosphocalcic profile and orthopedic manifestations in turner syndrome

Rachedi Hanae , Yagoubi Latifa , Zahra Najioui Fatima , Bouichrat Nisrine , Rouf Siham , Latrech Hanane

Introduction: Turner syndrome is one of the most common chromosomal anomalies occurring in approximately 1 in 1500 live-births females (1), resulting from the partial or complete absence of X-chromosome. It is associated to several skeletal abnormalities including short stature, delayed skeletal maturation, angular deformities of the limbs, spinal deformity, and early-onset osteoporosis. This study aims to evaluate the prevalence of these skel...

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hrp0098p3-331 | Late Breaking | ESPE2024

Associated clinical abnormalities among patients with Turner syndrome

Selim Nihad , Abdelaziz Foued , Lotfi Boustil Ahmed , Sehab Hasna , Bouchair Nadira

Background: Turner syndrome (TS) is a condition that affects only females and occurs in 1 every 2500---3000 live births, it is a genetic disorder caused by total or partial loss of the second sex chromosome, clinical phenotype is highly variable. We aim ed to describe the clinical characteristics of TS patients.Methods: We studied females diagnosed with TS at University hospital of Annaba, between 2015 and 2024. Retrospe...

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hrp0098p3-332 | Late Breaking | ESPE2024

Chest Physiotherapy and Growth in preadolescents Algerians Children with Cystic Fibrosis: The Experience of a single center.

Oussalah Meriem

Background: Growth failure has long been cited as the main endocrine complication of cystic fibrosis. But with the therapeutic advances, this retardation is less observed; however, access to these therapies is not the same in all countries.Objective: To evaluate the influence of respiratory physiotherapy on growth in patients with cystic fibrosis outside in childrens from the age of 8 years "the beginning of childre...

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hrp0098p3-333 | Late Breaking | ESPE2024

Fahr’s Disease presenting with nonfebrile epileptic seizures: Case report and Systematic Literature Review”

Radi Abdelilah , Eric Abankwah Sarpong , Rachid Abilkassem Abilkassem

Fahr's disease is a very rare condition characterized by abnormal, symmetrical, and bilateral deposits of calcifications in the basal ganglia without an identifiable cause. Fahr's disease must be differentiated from Fahr's syndrome, which is also a rare anatomo-clinical entity, characterized by the presence of intracerebral calcifications located in the basal ganglia, most often associated with phosphocalcic metabolism disorders, primarily hypoparathyroidism. Wh...

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hrp0098p3-334 | Late Breaking | ESPE2024

A Case of 21-Hydroxylase Deficiency with Familial Hypercholesterolemia

Zhang Ying , Chen Ruimin

Objective: To describe the clinical characteristics of a child with 21-hydroxylase deficiency (21OHD) combined with familial hypercholesterolemia (FH), who also developed Kawasaki disease (KD), and to follow up over a long period.Methods: Clinical data of a boy with 21OHD combined with FH were collected. Treatments with hydrocortisone, fludrocortisone, atorvastatin, and ezetimibe were administered, with monitoring of the...

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hrp0098p3-335 | Late Breaking | ESPE2024

Pituitary stalk interruption syndrome: a pathology not to be ignored

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: Pituitary stalk interruption syndrome (PSIS) is a congenital anomaly of the pituitary gland responsible for pituitary insufficiency. Its prevalence is unknown but approximately 1000 cases have been reported to date. It is characterized by a triad associating a very thin or interrupted pituitary stalk, an ectopic or absent posterior pituitary gland (EPP) and hypoplasia of the anterior pituitary gland, visible on MRI. Its etiology remains unknown.<...

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hrp0098p3-336 | Late Breaking | ESPE2024

McCune-Albright Syndrome: knowing how to think about it

Ould Mohand Ouamer , Allali Kawthar , Zeroual Zoulikha , Mekki Azzedine

Introduction: McCune-Albright syndrome (MAS) is characterized by fibrous dysplasia (FD), cafe-au-lait skin spots and precocious puberty (PP). MAS is a rare disorder and its prevalence is estimated to be between 1/100 000 and 1/1 000 000. Activating somatic mutations of GNAS gene located on chromosome 20q13 encoding the α-subunit of the regulatory Gsα protein are responsible for the entity.Observation: This is...

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hrp0098p3-337 | Late Breaking | ESPE2024

CSNK2B mutation: a rare cause of IGHD

Aouchiche Karine , Romanet Pauline , Barlier Anne , Brue Thierry , consertium Auragen , Pertuit Morgane , Reynaud Rachel , Saveanu Alexandru

Poirier-Bienvenue syndrome (POBINDS) is rare neurodevelopmental syndrome, resulting from germline hereteozygous CSNKB2 pathogenic variants. Patients mainly presented with severe epilepsy, delayed psychomotor development and/or profound intellectual disability. More recently patients with CSNK2B pathogenic variants and mild intellectual disability (ID), without any history of epileptic symptoms were reported. Short stature is present in 66% of patients, due in...

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hrp0098p3-338 | Late Breaking | ESPE2024

Diagnostic Accuracy of ITT Peak Cortisol Levels for Identifying ACTH Deficiency in Patients with Suspected Hypothalamic-Pituitary-Adrenal (HPA) Axis Dysfunction.

Alanazi Sami , Somer Eric , Cody Declan

Background: The hypothalamic-pituitary-adrenal (HPA) axis is vital for stress response and homeostasis. Central adrenal insufficiency (CAI) results from inadequate adrenocorticotropin (ACTH) secretion due to hypothalamic or pituitary disorders, leading to insufficient adrenal cortisol production. CAI manifests in nonspecific symptoms and can cause life-threatening adrenal crises. Diagnostic delays are common due to the nonspecific symptoms, making accurate and...

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hrp0098p3-339 | Late Breaking | ESPE2024

A case of germinoma presented with primary amenorrhae and hypopitutarism

Huynh Thoai Loan , Ho Thi Ngoc Bich

Backgrounds: Intracranial germinomas (GN) are rare cancers that primarily affect children which accounts for 3.8% of primary brain tumors in children and adolescents. Germinomas located in the suprasellar region can be manifested by: excessive thirst and urination, early puberty, delayed growth or sometimes the only symptom is Fatigue or altered sleep patterns – making the diagnosis difficult to be reached.Case: We...

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hrp0098p3-340 | Late Breaking | ESPE2024

Pituitary stalk interruption syndrome: Clinical, biological and radiological aspects of 20 cases.

Smouni Meryem , Filali Imane , Amhajar Samah , Imane Zineb

Introduction: Pituitary stalk interruption syndrome (PSIS) is a relatively common cause of growth hormone deficiency and hypopituitarism, often diagnosed during the neonatal period or early childhood. Is a syndrome characterized by an absent or hypoplastic anterior pituitary gland, thin or absent infundibulum, and ectopic posterior pituitary location. The aimof this study is to describe the clinical and paraclinical aspects of PSIS.<stro...

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hrp0098p3-341 | Late Breaking | ESPE2024

Characteristics and influencing factors of postoperative glucose and lipid metabolism in children with craniopharyngioma

Dilong Wang , Liang Liyang

Previous studies have found that the incidence of postoperative metabolic diseases (such as obesity, cardiovascular diseases and diabetes) in patients with craniopharyngioma (CP) is high, which seriously affects the long-term quality of life of patients. At present, few data on postoperative glucose and lipid metabolism in patients with CP, and the results of different studies are heterogeneous. The purpose of this study is to monitor the glucose and lipid metabolism indexes a...

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hrp0098p3-342 | Late Breaking | ESPE2024

Growth hormone deficiency and malformative diseases of the pituitary gland: diagnosis and evolutionary particularities in a series of 20 cases

Zerguine Halima , Hassina Djedili , Asma Mabrouk , Hadef Djohra

Introduction: Growth hormone deficiency diagnosed in paediatrics is most often idiopathic. However, it is essential to look for pathology of the hypothalamic-pituitary region in order to individualise the management and follow-up of children according to the pituitary lineages affected. Our aimis to report the diagnosis particularities of malformative pathologies of the pituitary gland in children referred to the paediatric endocrinology consultation at Batna ...

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hrp0098p3-343 | Late Breaking | ESPE2024

Primary amenorrhea in a 16-year-old girl

Fadel Asma , Bensallah Meriem , Dahlouk Djazia

Amenorrhea constitutes one of the primary reasons for consultation in reproductive medicine. Amenorrhea in adolescents can be either primary or secondary.Clinical Observation: She is a 16-year-old girl, born of a second-degree consanguineous marriage, the eldest of 2living siblings, She presents with primary amenorrhea. A aunt, aged 40, also presents with the same unexplored issue. The illness history dates back a year following primary ...

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hrp0098p3-344 | Late Breaking | ESPE2024

Effects of probiotic supplementation during childhood on the gut microbiota when puberty onset in lactating female mice

Yuan Xin , Chen Ruimin

This study investigated the effects of probiotics oral intake during childhood on gut microbiota at the time of puberty onset in lactating female mice. Female mice were administered a probiotic suspension containing Bifidobacterium longum, Lactobacillus bulgaricus and Streptococcus thermophilus from postnatal 21 days for a duration of 7 days. The timing of vulva opening was observed. Fecal samples were collected and analyzed for 16s rDNA and short-ch...

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hrp0098p3-345 | Late Breaking | ESPE2024

An extraordinary case, Leydig cell tumor in a 6-year-old girl with significantly elevated 17-OH Progesterone

Shatnawi Esraa

We report a case of a 6-year-old girl who presented to our clinic with virilizing symptoms (clitoromegaly, acne and pubic/axillary hair), in addition to elevated androgen levels. She was firstly misdiagnosed as a case of non-classical congenital adrenal hyperplasia; due to the severely elevated 17-hydroxyprogesterone (17-OHP) level. Thereafter, with progressive clinical and biochemical hyperandrogenism despite adequate treatment with hydrocortisone, further evaluation was done...

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hrp0098p3-346 | Late Breaking | ESPE2024

Severe Adolescent Androgenization secondary to an Ectopic Hilus Cell Nodule: a Case Report

Dey Subrata , Samaddar Sukla

Introduction: Virilization and menstrual irregularities in a background of insulin resistance in adolescents is commonly attributed to polycystic ovarian disease (PCOD). However, clinicians should have a high index of suspicion for causes masquerading as PCOD when encountering atypical findings. We describe a case where we identified a rare cause of androgen excess.Case: A 13-year-old girl presented with primary amenorrh...

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hrp0098p3-347 | Late Breaking | ESPE2024

A case report of Gonadoblastoma in Turner Syndrome

Baykut Sibel , Eren Erdal , Denkboy Öngen Yasemin

Background: Turner syndrome has a variety of different karyotypes, with a wide range of phenotypic features, but the specific karyotype may not always predict the phenotype. TS with Y chromosome mosaicism may have mixed gonadal dysgenesis, and the mosaicism is related to the potential for gonadoblastoma. Our case is a mosaic Turner syndrome patient with gonadoblastoma.Case Summary: A 14-year-old girl was admitted to the ...

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hrp0098p3-348 | Late Breaking | ESPE2024

A phenotipically female child with Deletion 9p Terminal Syndrome with Sexual Development Disorder - case report

Ignjatovic Milica , Cvetkovic Vesna , Stankovic Sandra , Jakovljevic Milica , Andrejevic Marija , Stankovic Tatjana

Background: Deletions of distal chromosome 9p24 are often associated with 46,XY gonadal dysgenesis and, depending on the extent of the deletion, the monosomy 9p syndrome. The phenotype shows variable expressivity and is related to the size of the deletion. XY sex reversal is a relatively rare type of DSD (disorder of sexual development). Terminal region of short arm chromosome 9p (9p24.3 region) contains 3 types of DMRT genes (DMRT1-3). DMRT1 gen acts in syner...

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hrp0098p3-349 | Late Breaking | ESPE2024

Clinical characteristics of patients who underwent gonadectomy from a low middle income country

Naotunna Chamidri , Hoole Thabeetha , Atapattu Navoda

Objective: To determine the clinical characteristics of patients who underwent gonadectomy from low middle income country.Method: Retrospective data was obtained from children who are followed up in a single center since 2013Results: There were nine patients who underwent bilateral gonadectomy. Age at presentation varied from 8 years to 15 years. Seven patients (77%) underwent surg...

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hrp0098p3-350 | Late Breaking | ESPE2024

An unusual presentation of longstanding Hashimoto’s Hypothyroidism with atrophic thyroiditis: Diagnostic challenges and opportunities in a resource poor set up.

Wamalwa Phoebe , Amolo Prisca , Omar Anjumanara , Kihoto Rosemary , Mukui Antony

Background: Hypothyroidism is an endocrine condition that occurs when the thyroid gland doesn’t make enough thyroid hormone. This condition affects approximately 5% of the general population with an additional estimated 5% being undiagnosed. Clinical presentation may be atypical with subsequent misdiagnosis in the absence of relevant specialists. Pediatric endocrinologists are just five in the Kenyan county hospitals, two of whom were funded by the Kenya...

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hrp0098p3-351 | Late Breaking | ESPE2024

Physical and neuropsychiatric development of children with subclinical congenital hypothyroidism does not depend on treatment tactics

Kiiaev Alexey , Makretskaya Nina , Slovak Mariya , Udachina Anastasiya , Savelyev Leonid

Background: Subclinical congenital hypothyroidism is a condition that occurs when serum thyroid stimulating hormone (TSH) is elevated, with circulating thyroid hormone levels within their reference ranges, observed at neonatal screening. To date, the question of the need for treatment of this condition remains open. Also the effect on the physical and neuropsychiatric development of children remains unclear.Aims: To eval...

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hrp0098p3-352 | Late Breaking | ESPE2024

Pediatric hashimoto’s encephalopathy presenting as super refractory status epilepticus

Patil Rohini , Omar Anjumanara , Ahmed Ismail , Wamalwa Phoebe , Oyatsi Donald

Background: Pediatric Hashimoto’s encephalopathy (HE) is a rare, progressive and relapsing steroid- responsive autoimmune encephalitis. Children usually present with subacute cognitive dysfunction, psychiatric symptoms, seizures, and movement disorders associated with elevated thyroid antibodies, specifically thyroid peroxidase (TPO) antibodies. We present a rare pediatric Hashimoto’s encephalopathy with super refractory status epilepticus<p cl...

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hrp0098p3-353 | Late Breaking | ESPE2024

A rare case of thyroid cancer in an adolescent girl

Shan Queenie See Wing , Fei Geoffrey Yu Chek , Pun Wong Kai , Yeung Fanny , Lok Wendy Chan Wing , Mark Vivian , Kit Grace Poon Wing

Follicular thyroid carcinoma (FTC) is a rare subtypes of thyroid cancer in children that consists of less than 10% of thyroid cancer. It has a wide range of clinical behaviors from indolent to widely metastasis. There are currently no evidence-based consensus or management guidelines for FTC in children. We describe the treatment challenges in a 9-year old girl with encapsulated angiovasive follicular thyroid carcinoma post right hemithyroidectomy with an enlarged left submand...

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ESPE Abstracts

62nd Annual ESPE (ESPE 2024)

BiosciAbstracts