Previous issue | Volume 97 | ESPE2023

61st Annual ESPE (ESPE 2023)

The Hague, Netherlands
21 Sep 2023 - 23 Sep 2023

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The 61st ESPE Annual Meeting will now be taking place in The Hague, The Netherlands

Poster Category 2

Late Breaking

hrp0097p2-241 | Late Breaking | ESPE2023

Primary hyperparathyroidism in children

Benina Anastasia , Kolodkina Anna , Bezlepkina Olga

Key words: primary hyperparathyroidism, parathyroid gland, genetic study.Background: Primary hyperparathyroidism (PHPT) is a rare disease with a prevalence up to 2-5:100,000. About 90-95% of cases are isolated adenomas, 5-10% cases are due to hereditary syndromes. Parathyroid carcinomas occur in less than 1%.Aim: To study clinical features and genetic characteristics of patients wi...

hrp0097p2-242 | Late Breaking | ESPE2023

Endocrine manifestations of the COVID-19 pandemic in children and adolescents: a scoping review

Seneviratne Sumudu , Pallegama Chamathka , Karunathilake Chamathni , Thalompita Malintha , Jayarajah Umesh

Introduction: There is limited data on endocrine manifestations of the COVID-19 pandemic in children/adolescents. We conducted a scoping review to summarize available evidence.Method: A literature search was conducted using PubMed, Scopus and Google Scholar databases to identify studies on endocrine manifestations of COVID-19 in children/adolescents, published up to 31/03/2023 using pre-specified keywords, and perusing a...

hrp0097p2-243 | Late Breaking | ESPE2023

Endocrine Outcomes in Bardet-Biedl Syndrome from a Large Single-Centre Paediatric Multidisciplinary Clinic

Varughese Rachel , Pujari Divya , Hatton Elizabeth , Dyakova Theodora , Sparks Kathryn , Flack Sarah , Forsythe Elizabeth , Beales Phil , Chesover Alexander

Introduction: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000 – 160,000, caused by mutations across >20 known genes encoding for proteins responsible for the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...

hrp0097p2-244 | Late Breaking | ESPE2023

The impact of weight for length on the assessment of congenital growth hormone deficiency

Henry Rohan , Mamilly Leena , Chaudhari Monika , Pyle- Eilola Amy , Wang Jingcai

It has been established that a random growth hormone (rGH) level can be obtained and is useful within the first 28 days of life for establishing a diagnosis of congenital growth hormone deficiency (cGHD). However, it remains unclear if weight-for-length (WfL), a surrogate for adiposity, impacts these levels, similar to how body mass index in older subjects impacts peak growth hormone levels derived from provocation testing. The objective of this study is to determine the impac...

hrp0097p2-245 | Late Breaking | ESPE2023

Neonatal Hypocalcaemia and association with maternal Magnesium sulphate (MgSO4) administration in a single center neonatal unit

Kollurage Udeni , Morley Elizabeth , Baachaa Zuro , Dogar Azeem , Gireesh Rayasandra

Introduction: Hypocalcaemia is a biochemical abnormality noted in neonates and considered a possible side effect of maternal MgSO4 administration. Suggested mechanism is MgSO4 treatment increase maternal hypermagnesemia, inhibiting maternal parathyroid hormone secretion leading to maternal and foetal/neonatal hypocalcaemia.Objectives: This study is aimed to identify common risk factors, presentation, biochemical abnormal...

hrp0097p2-246 | Late Breaking | ESPE2023

Results from a Multi-Stakeholder Meeting on Medical Devices in Paediatric Type I Diabetes

Biester Torben , Reschke Felix , Danne Thomas , Julien Marc , Lusar Irja , Cheng Katharine , Cavaller-Bellaubi Maria , Katz Michelle , Niemoeller Elisabeth , Renard Eric , Sturny Maren , Geertsma Robert , Vassal Gilles

Objectives: To discuss all challenges involved with providing children (including the very young) and adolescents with diabetes (CwD) with the latest appropriate technology, such as automated insulin delivery systems (AIDs), to manage their blood glucose and help improve their quality of life and suggest ways in which access to new types of devices available to adults can be improved for children with T1D.Methods: In con...

hrp0097p2-247 | Late Breaking | ESPE2023

Fluid Selection in The Management of Diabetic Ketoacidosis in Children: A Systematic Review

Novina Novina , Hermawan Kartika

Introduction: DKA is the most common cause of hospitalization, morbidity, and death in children with T1DM. Based on the International Society of Pediatric and Adolescent Diabetes (ISPAD) 2022, the biochemical criteria of DKA are: hyperglycemia (blood glucose >200 mg/dL), acidosis (venous pH <7.3 or bicarbonate <18 mmol/L), and ketonemia or moderate/large ketonuria. The principles of ABC (airway, breathing, circulation, and fluid resuscitation) are the...

hrp0097p2-248 | Late Breaking | ESPE2023

Pediatric Hyperthyroidism in the Time of COVID-19: An Updated Presentation Analysis

Sol Ventura Paula , Gonzalez Alba , Valls Aina , Murillo Marta

Abstract: The SARS-CoV-2 virus uses ACE2 combined with the transmembrane-protease TMPRSS2 to enter and infect thyroid follicular cells. Studies have reported a higher incidence of hyperthyroidism cases during the COVID-19 pandemic compared to pre-pandemic periods. Studies have also been reported cases of thyroid dysfunction early after mass covid vaccinations. However, there are insufficient data to confirm these associations in children.<p class="abstext"...

hrp0097p2-249 | Late Breaking | ESPE2023

Longitudinal Improvements in Health-Related Quality of Life among Children and Adolescents enrolled in Canadian Pediatric Weight Management Programs

Ybarra Marina , Rebekah Grace , D. C. Ball Geoff , Buchholz Annick , Hamilton Jill , Zenlea Ian , Morrison Katherine

Background: It is critical to understand patient-reported outcomes in pediatric patients enrolled in pediatric weight management (PWM) clinics. Health-related quality of life (HRQoL) is low in children with obesity. Utilizing data from the CANadian Pediatric Weight Management Registry (CANPWR), we examined (1) changes in HRQoL up to 3 years after enrollment in PWM and (2) factors associated with change in HRQoL over time.Methods:...

hrp0097p2-250 | Late Breaking | ESPE2023

Update on the Etiological Diagnosis of Central Precocious Puberty in Both Sexes

Canton Ana , Claudia Latronico Ana , Montenegro Luciana , Piovesan Maiara , Faria Aline , Tinano Flavia , Pedrosa Ludmila , Seraphim Carlos , Mendonça Berenice , Brito Vinícius

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...

hrp0097p2-251 | Late Breaking | ESPE2023

Environmental sustainability of three injection pens used for administration of recombinant human growth hormone

Dantas Araujo Thiago , Centonze Chiara , Koledova Ekaterina

Background: Growth hormone (GH) therapy typically involves daily administration of recombinant-human growth hormone (r-hGH) injections over many years. Long-term treatment attracts substantial costs due to the regular usage of injector pens. We conducted a study to understand the environmental impact of reusable and disposable GH injector pens.Aim: To assess environmental sustainability of Aluetta® reusabl...

hrp0097p2-252 | Late Breaking | ESPE2023

Pump management of genetic and autoimmune diabetes under 1 years old: two case reports.

Martino Mariangela , Gutierrez De Rubalcava Doblas Joaquin , Cusinato Maria , Gabrielli Claudia , Negri Arianna , Righetto Elena , Moretti Carlo

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

hrp0097p2-253 | Late Breaking | ESPE2023

Challenges and Outcomes of Using Insulin Analogues in Children with Diabetes in Low- and Middle-Income Countries.

Marzouk Asma , Laajili Mariem , Bouaziz Asma

Introduction: The selection of insulin therapy for children with type 1 diabetes (T1DM) poses a challenge, particularly in low- and middle-income countries. This study aimed to assess the utilization of insulin analogues in diabetic children and identify factors associated with achieving glycemic goals.Methods: In a retrospective study involving 80 children with T1DM, the impact of transitioning from human insulin to ins...

hrp0097p2-254 | Late Breaking | ESPE2023

Decrease in the percentage of eutrophic adolescents in Brazil, temporal evaluation from 2010 to 2022.

M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís , M Pinto Renata

Introduction: Adequate nutritional status of adolescents is essential for their healthy development, with health repercussions in both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian adolescents (10 to 19 years old) between 2010 and 2022.Patients and methods: Descriptive ecological study. Data obtained from e-SUS Primary Care. The BMI cat...

hrp0097p2-255 | Late Breaking | ESPE2023

Phenolic Endocrine Disruptors as Potential Risk Factors for Early Onset Thelarche: Insights from a Population-Based Study

Sol Ventura Paula , Escribano Arantxa , Herrero Xavier , Torrebias Meritxell , Corripio Raquel , Castiello Francesca , Riaño Isolina , Olivas Alicia , Suarez Beatriz , Freire Carmen

The diagnosis of early thelarche is common in Pediatric Endocrinology consultations, with many cases lacking an organic cause. It can either spontaneously resolve, remain stable, or progress to precocious puberty. Early exposure to endocrine-disrupting environmental pollutants (EDs) with estrogenic and/or anti-androgenic effects during pregnancy or childhood may affect the timing of thelarche onset and/or puberty in girls. Further research is needed to better understand the in...

hrp0097p2-256 | Late Breaking | ESPE2023

Influencing Factors of Growth Hormone Treatment in Short Stature Children Born Small for Gestational Age in China: a single-center, cross-sectional survey

Cheng Ruoqian , Sun Chengjun , Wu Jing , Xu Zhenran , Ni Jinwen , Xi Li , Li Xiaojing , Luo* Feihong

Keywords: growth hormone, small for gestational age, genetic defects; Silver-Russell syndrome; growth hormone deficiencyObjectives: To evaluate the influencing factors of GH treatment in Chinese short stature children born SGA.Methods: This was a single-center, retrospective, cross-sectional survey in China. Of 101 patients were identified born SGA and 66 short stature children bor...

hrp0097p2-257 | Late Breaking | ESPE2023

A cohort study on growth hormone therapy in Chinese children with Prader-Willi syndrome – the effect of treatment age

Zho Qiong , Zou Chaochun

Background: Prader-Willi syndrome (PWS) is a rare multisystemic genetic disorder. Recombinant human growth hormone (rhGH) therapy is the most established form of treatment for PWS. This study aimed to investigate the effect of rhGH treatment age on the treatment outcome of children with PWS.Methods: A retrospective analysis of 167 genetically confirmed Chinese children with PWS followed between 2017 and 2022. Unadjusted ...

hrp0097p2-258 | Late Breaking | ESPE2023

Long-term Safety and Effectiveness of Growth Hormone in Pediatric Patients with Growth Disorders in Korea: A 10-Year Interim Analysis of the LG Growth Study

Sang Lee Hae , Chung Sochung , Rhie Young-Jun , Hyun Kim Jae , Chae Hyun-Wook , Ho Choi Jin , Ah Lee Young , Mi Kim Yoo , Tae Hwang Il

Objectives: This study aimed to evaluate the safety and effectiveness of rhGH treatment, using specific products (Eutropin®, Eutropin®Pen, Eutropin®AQ, Eutropin®Plus and Eutropin®SPen; LG Chem, Ltd.), in pediatric patients with growth disorders in Korea.Methods: Among the patients who enrolled in LGS (2012–2022, n=5,120), patients received at least one injection of rhGH were included fo...

hrp0097p2-259 | Late Breaking | ESPE2023

Saudi experience of long term treatment for Laron syndrome with IGF-1 injection over 22 years, cohort study

Binladen Amal , Al-ashwal Abdullah , Al-Fattani Areej

Background: Laron syndrome is an autosomal recessive disease caused by molecular defect in GH receptor gene. The patients have severe growth retardation and clinical features of GHD with low IGF-1, high basal GH and failed response to IGF-1 stimulation test. The only proved treatment is daily recombinant IGF-1 administration which showed improvement in linear growth.Aim: To describe the largest group of patients with lar...

hrp0097p2-260 | Late Breaking | ESPE2023

Pseudohypoaldosteronism: a challenging diagnosis with management pitfalls

Babiker Amir , Aldabas Haya , Alanazi Shahad , Alahmadi Bashayer , Al Atawi Mohsen , Aljuraibah Fahad , Almutair Angham

Background: PHA is a rare, but life threatening condition, that usually presents with impressive hyperkalemia. It can be initially missed as congenital adrenal hyperplasia (CAH). We present a series of these patients to increase the awareness of treating physicians about misdiagnosis and pitfalls in management.Case Report: We admitted 4 cases in our institution between 2017-2021. Case one, three and four were all 7 days ...

hrp0097p2-261 | Late Breaking | ESPE2023

Rare cause of Endocrine Hypertension - Apparent Mineralocorticoid Excess with a novel mutation

Valliyappan Soundaram , Saravanan Margabandhu , Kapoor Ritika

Introduction: Apparent mineralocorticoid excess (AME) is rare cause of endocrine hypertension. 11 alpha hydroxysteroid dehydrogenase(HSD) type 2 enzyme metabolises cortisol to cortisone, thereby inhibiting cortisol acting at mineralocorticoid receptor(MR). In AME, this enzyme is defective resulting in unmetabolised cortisol causing MR activation with resultant hypokalemic metabolic alkalosis and hypertension.Case presentation:</s...

hrp0097p2-262 | Late Breaking | ESPE2023

A new case of Malan Syndrome with de novo NFIX sequence variants and a review of the literature

Leng Jie , Cheng Xinran

Background: We report clinical and molecular cytogenetic characterization of a 13-year-7-month-old boy with a Sotos-like phenotype and de novo NFIX deletions and review the literature.Result: A whole exome sequencing revealed in the present patient with unique clinical phenotypes a de novo frameshift mutation c.570-573delATCA (p.S191Ifs*19) in NFIX gene in 19p13.2.Discussion: The p...

hrp0097p2-263 | Late Breaking | ESPE2023

The gene diagnostic challenge of extrem early-onset obesity before 6 years old

Chen Si , Cheng Xinran , Li Zhonghui , Ge Liyuan , Wang Liuxu

Purpose: The causes of obesity is so much that the pandemic spread the global. The inherited factors have a profound effect on body fat mass, as well as the environmental factors. Out of these, the foremost is genetic factors that tend to early childhood obesity. The consensus recommended that genetic testing is necessary for serious early onset obesity to identify the pathogenic genes of inherited obesity. In order to improve the positive rate of genetic test...

hrp0097p2-264 | Late Breaking | ESPE2023

Improvement in the nutritional status of Brazilian children under five years of age, evaluation from 2010 to 2022.

M Pinto Renata , M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The good nutritional status of children in the first years of life is essential for their healthy growth and development. Evaluating the repercussions of nutritional status is fundamental since nutrition can influence both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 0 to 5 between 2010 and 2022.Patients and methods:...

hrp0097p2-265 | Late Breaking | ESPE2023

in vitro metabolic homeostatic activity of brown adipose tissue-derived exosomes

Kabataş Bilge , Eren Simge , Yıldırım Merve , Ünsal Naz , Eren Olcay

Introduction: Obesity and related metabolic diseases occur as a chronic imbalance between energy intake and energy expenditure. Due to its high metabolic activity, brown adipose tissue (BAT) has become a promising target for the development of new treatment concepts for metabolic disease. Having a high concentration of mitochondria, BAT is necessary to control the entire energy metabolism of the body. BAT consumes significant amounts of glucose and fatty acids...

hrp0097p2-266 | Late Breaking | ESPE2023

Rabson Mendenhall syndrome (RMS)- Insulin resistance type A. We need to act faster than the disease. Case Report

Muammar Tawfik , Helal Radwa

Background: Rabson Mendenhall syndrome (RMS) is an autosomal disorder where severe insulin resistance is observed. Insulin levels decrease over time and suppress gluconeogenesis in the liver. Fatty acid oxidation is affected leading to frequent episodes of ketoacidosis. The changes in RMS are much faster than in patients with type 2 diabetes. RMS patients have a significantly reduced life expectancy and may die during adolescence or early adulthood.<p clas...

hrp0097p2-267 | Late Breaking | ESPE2023

Intellectual outcome in children with early treated congenital hypothyroidism

Dissaneevate Pathikan , Witthayapraphakorn Lerlak

Background: Congenital hypothyroidism (CH) is one of the preventable causes of intellectual disability. L-thyroxine is a drug of choice for CH treatment to preserve normal brain development and function.Objective: to evaluate intellectual outcomes at preschool age in early treated CH.Materials and Methods: This retrospective chart review was conducted on 27 treated children with CH...

hrp0097p2-268 | Late Breaking | ESPE2023

Clinical characteristics, molecular genetics analysis results and long-term follow-up of a large cohort of congenital hyperinsulinism from Turkey: A nationwide cross-sectional study

Demirbilek Huseyin , Nuri Ozbek M , Yıldız Melek , LA Houghton Jayne , Onal Hasan , Gurbuz Fatih , Cetinkaya Semra , Cayir Atilla , Denkboy-Ongen Yasemin , Parlak Mesut , Gurpınar Tosun Busra , Mert Erbas Ibrahim , Akinci Aysehan , Okdemir Deniz , Anik Ahmet , Direk-Trabzon Gul , Acar Sezer , Yildirim Ruken , Celebi-Bitkin Eda , Turan Hande , Aydin Murat , Keskin Mehmet , Kilinc Suna , Curek Yusuf , Turan Ihsan , Mengen Eda , Odabas Sevinc , Akin Onur , Ozalkak Servan , Vuralli Dogus , Atalay Ilknur , Uçar Ahmet , Yuksel Bilgin , Ellard Sian , Hussain Khalid , E Flanagan Sarah

Objective: Congenital Hyperinsulinism(CHI) is a clinically, genetically, and histologically heterogeneous disease. Turkey is a county with highly prevalent cases of severe CHI due to the high rate of consanguinity and recessively inherited KATP gene mutations. We herein evaluated the clinical characteristics, molecular genetic analysis, and follow-up of a large nationwide cohort of CHI from Turkey.Patients and method: Th...

hrp0097p2-269 | Late Breaking | ESPE2023

Are Serum MOTS-c Levels and MOTS-c m.1382A>C Polymorphism Related to Polycystic Ovary Syndrome?

Eroğlu Filibeli Berna , Dedemoğlu Fatima , Garipçin Pınar , Bulut Seyran , İşbilen Başok Banu , Kızıldağ Sefa , Dündar Bumin , Çatlı Gönül

Introduction: Mitochondrial-derived peptide (MOTS-c) is originated from the 12S ribosomal region of mitochondrial DNA. MOTS-c functions as an activator of AKT and AMPK, which are involved in the insulin signaling pathway. In experimental studies, MOTS-c administration was shown to reduce insulin resistance and obesity. Besides, MOTS-c levels were decreased and negatively correlated with insulin resistance in obese male children. In male cases, the MOTS-c</...

hrp0097p2-270 | Late Breaking | ESPE2023

The effect of dulaglutide (GLP-1agonist) and metformin combination on weight loss in obese patients with and without type 2 diabetes. Gold combination?

Zohrabyan Naira , Hakobyan Sonya

Background: GLP-1 agonists have a special place in the treatment of type 2 diabetes mellitus (T2DM). Dulaglutide is GLP-1agonist with important advantages, it doesn’t cause hypoglycemia, reduces weight and decreases HbA1c with sufficient level. GLP-1 agonists are also involved in the treatment of obesity.Objectives: The purpose of this study was to present the efficacy of Dulaglutide (GLP-1) in obesity with and wit...

hrp0097p2-271 | Late Breaking | ESPE2023

Craniosynostosis in Patients With X-Linked Hypophosphatemia: a monocentric experience

Grandone Anna , Luongo Caterina , Aiello Francesca , Romano Francesca , Miraglia Del Giudice Emanuele , Aliberti Ferdinando

Introduction: X-linked hypophosphatemic rickets (XLHR) represents the most common form of genetic hypophosphatemia and causes rickets in children because of increased FGF23 secretion and renal phosphate wasting. Even though cranial vault an craniovertebral anomalies of potential neurosurgical interest, namely early closure of the cranial sutures and Chiari type I malformation (CM-I), have been observed in children with XLH, their actual incidence and character...

hrp0097p2-272 | Late Breaking | ESPE2023

Is screening for vitamin D deficiency reasonable or should we supplement at risk patients?

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Adriana Rangel Maria

Introduction: No consensus on vitamin D (VitD) deficiency screening in children and adolescents exists.Aim: To evaluate a sample of patients in whom VitD dosing was performed and determine the rationale for this assessment.Methods: Retrospective, longitudinal study of pediatric patients, from a Portuguese tertiary hospital, who had at least two 25(OH)D level blood sampling between ...

hrp0097p2-273 | Late Breaking | ESPE2023

Key parameters at puberty onset can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism

d'Aniello Francesco , Aung Yuri , Kokotsis Vasilis , R Howard Sasha

Introduction: Delayed puberty (DP), affecting over 2% of adolescents, is defined as pubertal onset 2-2.5 SDs later than the general population. The most common underlying aetiology is self-limited DP (SLDP). However, this can be difficult to differentiate from the more severe condition congenital hypogonadotrophic hypogonadism (HH), especially on first presentation of an adolescent patient with DP. This study sought to elucidate phenotypic and genotypic discre...

hrp0097p2-274 | Late Breaking | ESPE2023

Familial Chylomicronaemia Syndrome; A Challenging Condition in Pre-School Aged Children.

Alsaffar Hussain , Al-Battashi Sultan , Al-Kindi Fatima , Al-Shidhani Azza , Al-Farsi Nouf , Al-Rawahi Yusriya , Al-Waili Khalid

Introduction: Familial chylomicronaemia syndrome (FCS) is a rare autosomal recessive disorder caused by mutations in lipoprotein lipase, resulting in the accumulation of chylomicrons in plasma and therefore hypertriglyceridemia. Elevated triglycerides (TG) cause several complications, the most serious one is recurrent pancreatitis. The mainstream of management is a fat-restricted diet, followed by supplementing with Omega-3 fatty acids. Fenofibrate, and statin...

hrp0097p2-275 | Late Breaking | ESPE2023

Comparison of efficacy and safety of Leuprolide acetate depot 3.75 mg four-weekly versus 11.25 mg twelve-weekly in girls with central precocious puberty: A randomized-prospective study.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Gürpınar Tosun Busra , Kahveci Ahmet , Bereket Abdullah

Context: Clinical experience is limited regarding the efficacy of different depot Leuprolide acetate (dLA) treatment protocols in girls with central precocious puberty (CPP).Aim: To compare the 3.75 mg/4 weeks versus 11.25 mg/12 weeks &imath;ntramuscular injection of dLA in suppressing gonadotropins and pubertal development.Subjects and Methods: In a prospective study, 92 girls wit...

hrp0097p2-276 | Late Breaking | ESPE2023

Olfactory bulbs and genetic defects in adolescents with Kallmann syndrome and normosmic hypogonadotropic hypogonadism

Kokoreva Kristina , Chugunov Igor , Bezlepkina Olga

Objective: to assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. 36 patients were included. The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 patients with Kallmann syndrome...

hrp0097p2-277 | Late Breaking | ESPE2023

Evaluation of body composition and microcirculation in children and adolescents with growth hormone deficiency: effects of replacement therapy.

Rosa Stefano , Ferruzzi Alessandro , Zoller Thomas , Antoniazzi Franco , Pietrobelli Angelo

Aims: The aim of the study is to evaluate body composition and microcirculation in children and adolescents with growth hormone deficiency (GHD) and the effects of replacement therapy. These parameters were also evaluated in children and adolescents with suspected GH deficiency but in whom drug stimulus testing was later found to be normal.Materials and Methods: We examined 44 patients (25 males and 19 females) aged betw...

hrp0097p2-278 | Late Breaking | ESPE2023

Endocrine dysfunction in Charge Syndrome – short case series

Costa Cristiana , Laura Fitas Ana , Diamantino Catarina , Lopes Patrícia , Limbert Catarina , Lopes Lurdes

Introduction: CHARGE syndrome is a rare constellation of congenital malformations caused by mutations in CHD7 gene. The acronym stands for coloboma, heart defect, choanal atresia, retarded growth and development, genital hypoplasia, ear abnormalities, and/or hearing loss. Endocrine disorders associated with this syndrome include hypogonadotropic hypogonadism, ...

hrp0097p2-279 | Late Breaking | ESPE2023

The narrative of a patient with leptin receptor deficiency: personalized medicine for a rare genetic obesity disorder

S. Welling Mila , Kleinendorst Lotte , M. van Haelst Mieke , L.T. van den Akker Erica

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...

hrp0097p2-280 | Late Breaking | ESPE2023

Prevalence of Childhood Obesity Among Children Visited Paediatric Outpatient Clinics in Oman - A Single Centre Experience

Al-Lawati Osama , Al-Musharafi Ahmed , Al-Ghafri Shahad , Al-Harthi Hamza , Alsaffar Hussain

Introduction: Childhood obesity is a significant public health concern, affecting over 100 million children worldwide, with an overall prevalence of 13%. A previous Omani study in 2012 suggested the prevalence of childhood obesity in Oman was 12.5%.Objectives: This study aims to identify the prevalence of childhood obesity among children under the age of 13 yrs, who visited various pediatric outpatient clinics at Sultan ...

hrp0097p2-281 | Late Breaking | ESPE2023

Monogenic Causes of Early-Onset Obesity in Saudi Pediatric Patients: A Retrospective study.

Al-Sagheir Afaf , Al-Zahrani Asma'a

Background: As a global pandemic and a public health concern, obesity impacts physical health adversely. Obesity is defined as abnormal excessive fat accumulation in adipose tissue. Where a portion of which have polygenic and monogenic etiology. Individuals carrying a rare gene variant that has a striking impact on adiposity are considered to be part of Monogenic obesity. In this study, we aimed to identify the presence of monogenic mutations contributing to e...

hrp0097p2-282 | Late Breaking | ESPE2023

Impact of COVID-19 pandemic on vitamin D status in a Portuguese pediatric population: a comparation of pre-pandemic and pandemic periods

Oliveira Mariana , Cláudia Moura Ana , Miguel Cláudia , Pinto Mariana , Barros Marta , Almeida Nuno , Arménia Campos Rosa , Luísa Leite Ana , Adriana Rangel Maria

Introduction: Vitamin D (VitD) is a prohormone that is synthesized in the skin after sun exposure. Mandatory lockdown during the COVID-19 Pandemic may have altered the sun exposure time of children.Aim: to evaluate vitD levels in a sample of children and adolescents, and compare between pre-pandemic and pandemic periods.Methoths Children and adolescents, from a Portuguese tertiary ...

hrp0097p2-283 | Late Breaking | ESPE2023

Evaluation of body composition in Brazilian children and adolescents with X-linked hypophosphatemic rickets

de Paula Colares Neto Guido , Maria Rodrigues Pereira Rosa , Takayama Liliam , Ferreira de Assis Funari Mariana , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , Matsunaga Martin Regina

Introduction: X-linked hypophosphatemic rickets (XLH) is characterized by a mineralization disorder in the growth plate and cortical and trabecular bones, resulting in bone deformities with anthropometric changes and potential alterations in body composition.Objective: To evaluate the body composition of 12 children and adolescents with XLH compared to healthy controls by anthropometric and densitometry data.<p class...

hrp0097p2-284 | Late Breaking | ESPE2023

A new approach to estimate bone mineral density in pediatric subjects: Radiofrequency ecographic multi spettrometry (REMS). A comparison with DEXA.

Zoller Thomas , Pietrobelli Angelo , Ferruzzi Alessandro , Gatti Davide , Arrigoni Marta , Munari Stefania , Cavarzere Paolo , Antoniazzi Franco

Introduction: Limitations of the available imaging technique led the introduction of a new quantitative approach ultrasound-based for assessment of bone tissue in pediatric subjects. This new methodology use data from unfiltered radio frequency signals, collected during ultrasonographic acquisition of bone district of interest to estimate the bone mineral density. Advantages of this new technique include absence of radiation exposure, low cost of management an...

hrp0097p2-285 | Late Breaking | ESPE2023

Combined treatment with leuprolide acetate and burosumab in X-linked hypophosphatemic rickets and precocious puberty: a therapeutic response

Tempone Cardoso Penna Gustavo , Michelle de Araújo Evangelista Nara , Costa Figueiredo Carolina , de Fátima Tonetto Fernandes Vânia , Eduardo Correia Alves da Silva Felipe , Lenza Resende Mariana , de Paula Colares Neto Guido

Introduction: Generally, patients with X-linked hypophosphatemic rickets (XLH) experience normal puberty. However, they can be affected by metabolic and environmental factors that may predispose them to central precocious puberty (CPP) and impair their predicted final height, similar to the general population.Case Report: A female patient was diagnosed with XLH at three and received regular treatment with calcitriol and ...

hrp0097p2-286 | Late Breaking | ESPE2023

Wilson disease diagnosed incidentally by targeted gene panel sequencing with severe obesity

Im Minji

Wilson disease (WD) is a relatively common genetic hepatic disease in pediatric area and is characterized by excessive copper accumulation, predominantly in the liver and brain. It is an autosomal recessive disease caused by an ATP7B mutation that causes brain degeneration and is potentially fatal if diagnosed late or untreated. In the early phase of WD, its initial presentation may include mild hepatic involvement that may not be noticable. In obese patients, WD coul...

hrp0097p2-287 | Late Breaking | ESPE2023

Central diabetes insipidus in paediatric cerebral tumors: clinical and radiological features

Criscuolo Sabrina , Partenope Cristina , Bhushan Arya Ved , Albanese Assunta

Introduction: Paediatric brain tumours in the sellar-suprasellar region (SSR) are often associated with central diabetes insipidus (CDI), either at diagnosis caused by the tumour itself or during follow-up as consequence of treatments.Aims: To define the timing of CDI onset and radiological features on brain MRI in our cohort.Methods: We retrospectively analysed paediatric patients...

hrp0097p2-288 | Late Breaking | ESPE2023

Validation of utility of a single LH measurement 40 minutes after depot Leuprolide acetate 3.75 mg and 11.25 mg in assessing gonadotropic activity in girls with CPP: Comparison with a standard GnRH stimulation test at diagnosis and during treatment.

Helvacıoğlu Didem , Demircioğlu Serap , Güran Tülay , Haliloğlu Belma , Türkmen Nilsu , Gurpınar Tosun Buşra , Kahveci Ahmet , Bereket Abdullah

Context: Intravenous Gonadotropin-Releasing-Hormone (GnRH) stimulation test has a central role in evaluating gonadotropic activation in the diagnosis and monitorization of the treatment in patients with central precocious puberty (CPP). However, this test is invasive, laborious, costly and availability of GnRH preparation is limited in some countries.Objective: To evaluate the utility of the LH level measured 40-minutes ...

hrp0097p2-289 | Late Breaking | ESPE2023

The grey area in treatment of progressive short stature in patient with heterozygous NPR2 mutation

Pascu Bogdan

Introduction: Skeletal dysplasias associated with short stature are caused by inherited cartilage/bone development defects and are often associated with disproportionate short stature. We will present a case of heterozygous NPR2 variants in a patient with ISS.Case Report: A 8 years 3 months aged girl with normal perinatal and neonatal periods came for short stature evaluation. The clinical exam showed: 115.5 cm (-2.45 SD...

hrp0097p2-290 | Late Breaking | ESPE2023

Ovarian steroid cell tumor in a very young girl: clinical and genetic aspects

Kuperman Hilton , Macedo Mauricio , Hailley Nathalia , Shiang Christina , Norberto Stávale João , Odone Filho Vicente

Introduction: Precocious pubarche (PP) is characterized by the early development of pubic hair and clitoral enlargement in girls. While commonly attributed to adrenal-related causes, such as congenital adrenal hyperplasia or adrenal tumors, ovarian sources are infrequent etiologies. In this report, we present a clinical case of a young girl with PP due to a rare source.Case Report: A 1.7-year-old girl presented with the ...

hrp0097p2-291 | Late Breaking | ESPE2023

Early Endocrinopathy in Childhood Cancer Survivors in a Specialized Center in Riyadh

Sultan Alorini , Aldakhil Sadeem , AlKhanbashi Omar , Aljuraibah Fahad , Ahmed Naveed , Essa Mohammad , Babiker Amir

Introduction: Childhood cancer survivors (CCSs) has increased risk of endocrine complications, of which, abnormal growth and hypothyroidism are the commonest. The risk of developing endocrinopathy will vary according to different host factors including type of tumour and factors related to treatment modalities including chemotherapy, radiotherapy, surgery and bone marrow transplantation. we aim to assess the prevalence and associated risk factors of early deve...

hrp0097p2-292 | Late Breaking | ESPE2023

Accuracy of opportunistic height measurements in a tertiary pediatric hospital in Riyadh

Almulhem Beshaier , Babiker Amir , Awadalla Asma , Masud Nazish , Albraikan Ahmed , Almutairi Bassam , Al Dubayee Mohammed , Abed Omer

Background: Short stature is the commonest problem encountered in endocrine clinics. Accuracy in opportunistic measurements is helpful in guiding subsequent management regarding medication doses including growth hormone treatment. Our study aimed to assess the prevalence and factors affecting inaccurate height measurements in different non-Endo clinic visits in our tertiary institute.Methods: A retrospective cohort study...

hrp0097p2-293 | Late Breaking | ESPE2023

Unveiling the Complexities of Growth Failure: A Captivating Case of Short Stature with Coexisting Chronic Conditions

Pascu Bogdan , Bocai Raluca , Anton Patricia

Background: Short stature is a common presentation in pediatric endocrinology and its etiologies encompass non-endocrine factors, endocrine disorders, and normal variations. Growth failure can serve as an alarmingly subtle indicator of underlying severe diseases, sometimes obfuscating multiple causative factors. Understanding the complexities involved in evaluating growth failure in the presence of chronic conditions is crucial for efficient management. This c...

hrp0097p2-294 | Late Breaking | ESPE2023

Case Report: Untreated Congenital Hypothyroidism associated with hypertrophic pyloric stenosis

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

Congenital hypothyroidism (CH) occurs in approximately 1:2,000 to 1:4,000 newborns, in Algeria newborn screening programs do not exist, untreated CH remains a significant health and societal challenge. We report the case of a girl of 12 years old reffered for a failure to thrive, speech deficit and persistant vomiting, On clinical examination her height was –3 SDs with a very delayed bone age and a BMI of 35kg/m2 associated with severe musculoskeletal deformities and cog...

hrp0097p2-295 | Late Breaking | ESPE2023

Metabolic and growth outcome of two-years growth hormone treatment in children born small for gestational age: a retrospective study

Ferrigno Rosario , Cristina Savanelli Maria , Cioffi Daniela , Pellino Valeria , Klain Antonella

Children born small for gestational age (SGA) not showing catch-up growth in the first two years of life may show decreased growth rate and adult height, as well as worse metabolic profile, compared to general population. In these patients, growth hormone (GH) treatment is recommended, showing positive effects on both growth rate and metabolic profile, with good tolerability. The aim of the current study was to evaluate the auxological and metabolic effects and the safety of G...

hrp0097p2-296 | Late Breaking | ESPE2023

Cryptorchidism, and hormones in patients with androgen insensitivity syndrome and 5alpha-reductase type 2 deficiency

Liu Qingxu , Li Pin

Background: Data on the effect of cryptorchidism on hormones of androgen insensitivity syndrome (AIS) and 5alpha-reductase type 2 deficiency (5α-RD2) are still limited.Methods: We retrospectively evaluated 47 patients with AIS and 79 with 5α-RD2 to investigate the effect of cryptorchidism on hormone levels.Results: Anti-Müllerian hormone (AMH) levels in the AIS gro...

hrp0097p2-297 | Late Breaking | ESPE2023

Triglyceride glucose index, Triglyceride to high-density lipoprotein cholesterol ratio and pediatric NAFLD fibrosis index is the most valuable combination of criteria to detect fatty liver disease in overweight/obese boys

Pavlyshyn Halyna , Furdela Viktoriya

Introduction: The prevalence of obesity constantly increases worldwide and definitely increases the risk of premature death in early adulthood. Metabolic dysfunction-associated fatty liver disease (MAFLD) – a new term for fatty liver disease accompanied by other components of metabolic syndrome (MetS) connected with increase cardiovascular risk either in adult or children. Whereas there is no yet treatment with proven efficacy for the metabolic clamp suc...

hrp0097p2-298 | Late Breaking | ESPE2023

Insulin-like Growth Factor-1 as a Screening Tool for Central Precocious Puberty

Yoojin Chung Lindsey , Minji Im

Gonadotropin-releasing hormone (GnRH) stimulation test is the gold standard test for diagnosing central precocious puberty (CPP), which needs time and effort to perform. Recently, many studies confirmed that Insulin-like growth factor-1 (IGF-1) is involved in the initiation and progression of puberty. With this inspection, we assumed that the IGF-1 level might be correlated with the pubertal stage in central precocious puberty. This study aimed to investigate the value of IGF-...

hrp0097p2-299 | Late Breaking | ESPE2023

Comparative of serum estradiol levels in girls with different types of precocious puberty by liquid chromatography tandem-mass spectrometry and chemiluminescence immunoassay method

Chen Linqi , Shen Xinyi

Objectives: To compare the levels of estradiol (E2) in girls measured by liquid chromatography tandem-mass spectrometry (LC-MS/MS) and chemiluminescence immunoassay (CLIA), and to evaluate the correlations between E2 levels measured by the two methods and bone age, uterine length, and uterine volume. To explore the difference, consistency, and accuracy of LC-MS/MS and CLIA in determining E2 in girls with idiopathic central precocious puberty (ICPP), premature ...

hrp0097p2-300 | Late Breaking | ESPE2023

Short stature and IGF-1 resistance - unexpected association of Wolf-Hirschhorn Syndrome

Pascu Bogdan , Tala Simona

Introduction: Wolf-Hirschhorn syndrome (WHS) is a rare congenital disorder characterised by a "Greek-warrior-helmet" nasal appearance, growth delay, intellectual disability, and seizures. Limited studies exist on the growth evolution of WHS children, particularly regarding growth hormone (GH) therapy. We report a case of a 3-year-old boy with WHS and severe short stature.Case Report: A 3-year-old male child, se...

hrp0097p2-301 | Late Breaking | ESPE2023

Progression in height and bone age during the first year of long-term growth hormone therapy in pre adolescent GHD children

Li Yan , Xinran Chen , Chunzhu Gong

Key words: growth hormone defificiency,growth hormone, height,bone ageObjective: To evaluate the height and bone age (BA) of prepubertal growth hormone deficiency (GHD) children in the first year after long-term growth hormone treatment.Methods: According to the degree of bone age lag before treatment,36 prepubertal GHD children were divided into two groups&#xF...

hrp0097p2-302 | Late Breaking | ESPE2023

ESPE School Sharing Knowledge for Saving Patients' Lives: Empowering Pediatric Endocrinologists in Armenia

Navasardyan Lusine , Lundberg Elena , Toumasyan Dalar , Muradyan Irina

Background: Practicing as a Pediatric Endocrinologist in Armenia means living in a middle- to low-income country with semi-closed borders associated with war and conflicts. There are therefore fewer opportunities to attend educational events or training at highly rated hospitals worldwide to improve knowledge and skills on pediatric endocrinology. In April 2023 the Endocrine Society of Pediatric Endocrinologists (ESPE) held the ESPE Caucasus & Central Asia...

hrp0097p2-303 | Late Breaking | ESPE2023

The link between birthweight, obesity and insulin resistance

Olah Orsolya , Ilies Cristina , Atamni Samah , Marginean Otilia , Bizerea-Moga Teofana-Otilia

Background: Childhood obesity has emerged as a global pandemic, posing significant health challenges and necessitating urgent action to address its widespread prevalence and associated metabolic consequences. Understanding the link between childhood obesity, being born large for gestational age (LGA), and insulin resistance (IR) in children is crucial for developing targeted interventions and sustainable preventive measures against long-term health risks assoc...

hrp0097p2-304 | Late Breaking | ESPE2023

Metabolic syndrome in overweight and obese children

Ilies Cristina , Olah Orsolya , Fayad Almohamed , Marginean Otilia , Bizerea-Moga Teofana-Otilia

Introduction: Metabolic syndrome (MetS) is a group of conditions that occur simultaneously, involving excess body fat, arterial hypertension, impaired glucose metabolism and dyslipidemia. Establishing effective preventive measures and therapies requires an understanding of the relationship between childhood obesity and the early development of MetS components.Objective: The aim of this study was to identify and explore t...

hrp0097p2-305 | Late Breaking | ESPE2023

Precocious puberty and fluctuating β-HCG levels in a boy leading to diagnoses of klinefelter syndrome and mediastinal germ cell tumor

Shilo Smadar , Amar Shirah , Shefer Averbuch Noa , Rosenbaum Efraim , Phillip Moshe , Lazar Liora

Background: GnRH-independent precocious puberty with elevated β-human chorionic gonadotropin (β-HCG) levels can be the presenting sign of secreting germ cell tumor (GCT) in boys. These tumors are very rare, but have a higher incidence rate in Klinefelter syndrome.Case presentation: Here we report a case of a 7.3 year-old boy presenting with precocious puberty. In his physical examination, his height was 143.0 c...

hrp0097p2-306 | Late Breaking | ESPE2023

Infancy onset hypocalcemia due to maternal vitamin D deficiency

Pascu Bogdan , Ciobanu Carla

Hypocalcemia is a common metabolic problem and a recognized cause of seizures in neonates and infancy. Breastfed infants born to mothers who are vitamin D and or calcium deficient are at risk of developing vitamin D deficiency and hypocalcemia.Case report: We present two infants (two weeks old boy and a 9-month-old girl) with hypocalcemia caused by vitamin D deficiency admitted to our pediatric emergency department for seizures and tetan...

hrp0097p2-307 | Late Breaking | ESPE2023

Burosumab Therapy response in a family with X-Linked Hypophosphatemic Rickets

Carolina Arias Cau Ana , Quispe Florencia , Araya Nicolas , Sanchez Veronica

Introduction: X-linked hypophosphatemia (XLH), due to PHEX mutation, is the most common genetic form of rickets in children. This rare disease is characterized by decreased tubular reabsorption and increased renal loss of phosphorus due to increased FGF-23 levels. In children, XLH is often manifested by short stature, rickets and bowel limbs deformity. Conventional treatment with oral phosphorus salts and calcitriol is not always well tolerated which has a pro...

hrp0097p2-308 | Late Breaking | ESPE2023

The use of growth hormone in children and its effect on the thyroid function at Benghazi children hospital

Elshakmak Abdussalam , Elmhabresh Murad , Elhesuni Allia

Objectives: to describe the effect of GH therapy on thyroid function and the frequency of hypothyroidism during GH therapy.Patients and methods: This is retrospective case series observational study of 120 children (62 male and 58 female) treated with rGH at Endocrine clinic in Benghazi children hospital (2002 – 2017), categorized according to indication of therapy to main four groups namely: Growth Hormone Deficie...

hrp0097p2-309 | Late Breaking | ESPE2023

The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances.

Hulsmann Sanne , Petras Sarah , Fraboulet Philippe , Lu Yuan , van Santen Hanneke

Title: The making of the EndoWatch: A new device for Early Monitoring of Hypothalamic imbalances. Hulsmann S, Petras S, Fraboulet P, Yuan Lu, van Santen HM (on behalf of the EndoWatch team) Keywords: Paediatric and adolescent cancer survivors, Brain tumour, Quality of Life, Wearable, Hypothalamic Obesity Main goals: Aim for better quality of lifeIntroduction: Children and adults with a suprasellar (hypothalamic)...

hrp0097p2-310 | Late Breaking | ESPE2023

Exploration of rapidly progressive puberty early prediction in girls

Chen Linqi , Chen PingPing

Objective: To explore the influencing factors of girls with rapidly progressive puberty(RPP), to construct a risk prediction model of RPP in girls, to investigate the value of serum IGFBP-2, Irisin and Ghrelin in prediction of RPP in girls.Methods: 1. Construction and verification of the prediction model for girls with rapidly progressive puberty. The girls who visited the Department of Endocrinology, Children's Hos...

hrp0097p2-311 | Late Breaking | ESPE2023

Diagnostic challenges of congenital adrenal hyperplastic (CAH) in a tertiary care hospital of resource limited country

Ayub Aqeela , Sattar Hina , Waris Rehmana , Ayub Hamna , Shahid Gulbin , Shamsher Maria , Ahmed Butt Taeed

Background and objectives: The diagnosis of CAH is a matter of urgent attention as a missed diagnosis can add to mortality due to adrenal insufficiency and inadequate sex of rearing which is psychologically traumatic both for the parents and the child. It is also a matter of grave concern because screening facilities are non-existent in Pakistan along with increase prevalence of intra family marriages thus adding to the increase incidence of this condition. La...

hrp0097p2-312 | Late Breaking | ESPE2023

Clinical and Genotypic characteristics of cases of Congenital Adrenal Hyperplasia due to 11- Beta Hydroxylase Deficiency at Alexandria University Children’s Hospital

Elsayed Shaymaa , Alaa Eldin Thabet Mohamed , Marzouk Eman , Elneely Dalia , Fawzy Dina

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

hrp0097p2-313 | Late Breaking | ESPE2023

Oral Benfotiamine 300 mg Versus Intramuscular Thiamine in Diabetic Patients with Peripheral Neuropathy

Hesham El Hefnawy Mohamed , Ramadan Heba , effat Abanob

Keywords: Benfotiamine, Bioavailability, Thiamine, Diabetic Peripheral Neuropathy Abbreviations: Adverse Event (AE), Advanced Glycation End products (AGE), Analysis of Variance (ANOVA), Alanine Transaminase (ALT), Body Mass Index (BMI), Case Report Form (CRF), Diabetic Neuropathic Symptom score (DNSS), Diacylglycerol (DAG), Dipeptidyl Peptidase 4 Inhibitor (DPP-4 I), Good Clinical Practice (GCP), Informed Consent Form (ICF), Intent to Treat (ITT), Institutiona...

hrp0097p2-314 | Late Breaking | ESPE2023

Evaluation of the usefulness of antymüllerian hormone and inhibin B as markers of ovarian reserve in girls with hyper- and hypogonadotropic hypogonadism

Latyshev Oleg , Kabolova Kseniya , Okminyan Goar , Kiseleva Elena , Romaykina Daria , Samsonova Lubov

Hypogonadism is represented by a hypo- and hypergonadotropic variant. Antymüllerian hormone (AMH) and inhibin B are used to assess ovarian reserve, but in pediatric practice their role has not been studied. The main interest is to conduct the study of ovarian reserve in hypogonadism among girls.Objective of the Research: To compare the content of inhibin B, AMH and estradiol in girls with hyper- and hypogonadotropic hypogonadism...

hrp0097p2-315 | Late Breaking | ESPE2023

A case report of a novel mutation in AR gene in two sisters with 46-XY Karyotype

Rostami Parastoo , Mohsenipour Reihaneh

Introduction: Phenotype gender is the outcome of a long and coordinated set of fetal events that are controlled by genetic factors, hormonal factors and environmental factor. In the case of the 46XY fetus, SRY gene on chromosome Y determines the gender and cause bipotential gonad change to testes. And other factors such as sertolli cell by secreting anti-Mullerian hormone which leads to regression of the structures rooted in the paramesonephric ducts (tubes, w...

hrp0097p2-316 | Late Breaking | ESPE2023

Family case of constitutional delay of puberty

Latyshev Oleg , Okminyan Goar , Kiseleva Elena , Romaykina Daria , Samsonova Lubov

Introduction: One of the strategies of searching the genetic causes of CDGP is analysing the genes responsible for hypogonadotropic hypogonadism (HH).Objective: To investigate the role of the HS6ST1 gene in development CDGP.Materials and Methods: Two patients - height and BMI SDS, bone age, genitometric parameters, basal hormones, GnRH analogue test, hCG test, olfactometry, brain-M...

hrp0097p2-317 | Late Breaking | ESPE2023

"MRKH Type 2 with Menstruation: Unraveling an Unusual Case"

Novina Novina , Mar’atusalihat Sonya , Nuraeni Erni , Faisal Faisal

Introduction: Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is a congenital disorder characterized by agenesis or aplasia of the uterus and upper portion of the vagina in females with a normal karyotype (46,XX). Its incidence is approximately 1 in 4,000 to 5,000 live female births. The etiology of MRKH syndrome is highly complex and remains unclear, although genetics is believed to play a significant role in its pathogenesis.Cas...