Late Breaking

Anorexia nervosa (AN) manifests in the restriction of energy intake relative to energy output. Atypical AN includes those who meet the criteria for AN but are not underweight. Hypothalamic amenorrhea can be a presenting symptom in AN, and the return of menses is part of recovery. It can take more than a year for menses to return after weight restoration and nutritional rehabilitation. Hypercortisolemia is common in AN, but usually does not cause cushingoid symptoms We describe...

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hrp0095lb2 | Late Breaking | ESPE2022

Aromatase deficiency due to novel CYP19A1 mutation: A rare cause of maternal virilization and atypical genitalia.

Aftab Sommayya , Shaheen Tahir , Manzoor Jaida , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: Aromatase deficiency is a rare autosomal recessive condition due to mutation in CYP19A1 encoding aromatase enzymes. This enzyme protects fetus and mother from excess of androgens by converting them into estrogen. Lack of its activity results in accumulation of androgens which in turn lead to maternal and fetal virilization. We are reporting a neonate with atypical genitalia with severe maternal virilization due to a novel mutation in C...

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hrp0095lb3 | Late Breaking | ESPE2022

High Glycated Hemoglobin instead of High Body Mass Index Might Increase the Urine N-acetyl-β-D-glucosaminidase Concentration in Children and Adolescents with Diabetes Mellitus

Jin Park Su , Bae Ahn Moon , Suh Jin-Soon , Soon Cho Kyoung , Ho Jung Min , Suh Byung-Kyu

Children with diabetes, and particularly those with obesity, have poor glycemic control. They are thus at higher risk of early microvascular complications. Renal tubulointerstitial markers are integral to evaluating diabetic nephropathy. Various biomarkers have been proposed, but their role in the obese pediatric population is uncertain. We investigated renal injury markers in children with diabetes, according to obesity, and determined their role as early predictors of diabet...

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hrp0095lb4 | Late Breaking | ESPE2022

The association between glycated albumin and HbA1c in pediatric acute leukemia patients

Yeun Sim Soo , Bae Ahn Moon , Suh Byung-Kyu

Introduction: Traditionally, HbA1c has been used as a preferred glycemic index in diabetes patients. However, as many acute leukemia patients often present with anemia and/or pancytopenia, HbA1c may not accurately represent blood glucose level in this group. Glycated albumin represents the average level of blood glucose in recent 2-3 weeks, independent of red blood cell life. In this study, we aim to evaluate the usefulness of glycated albumin as glycemic moni...

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hrp0095lb5 | Late Breaking | ESPE2022

Incidence and Severity of Type 1 Diabetes Mellitus during COVID-19 Pandemic

Dieguez Abigayil , DeLacey Sean , Lado Juan , Levin Laura , Ranganna Adesh , Wu Margaret , E. Bianco Monica

Background: The COVID-19 pandemic continues to impact healthcare overall particularly in relation to diabetes. Initial studies showed delays in emergent healthcare utilization, decreased preventative care visits, and more severe presentations of new onset diabetes. However, the pathophysiologic relationship between COVID-19 and type 1 diabetes is not yet well understood.Objectives: Our primary objective was to compare th...

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hrp0095lb6 | Late Breaking | ESPE2022

A case series of two adolescent diabetic siblings due to novel mutation in CFAP126

Aftab Sommayya , Nadeem Anjum Muhammad , Saeed Anjum , Arshad Cheema Huma

Background: CFAP126 gene does play a role in the regulation of pancreatic beta cell. Literature suggests that CFAP126 was significantly downregulated in human islet cells of pre-diabetic as compared to non-diabetic and further downregulated in type 2 diabetics. However, to date CFAP126 has not been reported to cause clinical diabetes. We are reporting 2 diabetic siblings, with strong family history of type 2 diabetes on maternal side...

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hrp0095lb7 | Late Breaking | ESPE2022

Abstract Withdrawn...

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hrp0095lb8 | Late Breaking | ESPE2022

Stretched Penile Length Nomogram in Prepubertal Egyptian Children Aged Five to Nine years

Ibrahim Amany , Anwar Ghada , Soliman Hend , Assem Noha , Abu Zeid Eman

Background: Penile length is used to assess the external genitalia and abnormalities in external genitalia, e.g. macro and micro-penis. Early diagnosis of abnormal penile size is crucial, but proper assessment is mandatory to identify the normal population-specific, age-appropriate reference ranges.Objective: Our study aimed at assessment of stretched penile length values for prepubertal Egyptian boys aged five to nine y...

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hrp0095lb9 | Late Breaking | ESPE2022

Prevalence and Factors Associated with Hypothyroidism in Children with Sickle Cell Anemia Aged 6 Months -17 Years Attending the Sickle Cell Clinic, Mulago Hospital, Mg anda; A cross-sectional study

Kaudha Gloria , Musiime Victor , Piloya Thereza , Kiguli Sarah , Tumwine James

Background: Sickle cell anemia (SCA) leads to chronic end organ damage including the thyroid gland. This is postulated to be due to recurrent hemolysis leading to iron overload, vaso-occlusive crises, micro-vasculature obstruction due to red cell entrapment and frequent transfusions. Some studies have demonstrated a relationship between hypothyroidism and SCA with a prevalence of 6% in children and adolescents. Hypothyroidism may affect brain and physical deve...

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hrp0095lb10 | Late Breaking | ESPE2022

Novel CUL3 Variant in Pseudohypoaldosteronism Type 2

Turan Ihsan , Damla Kotan Leman , Atmis Bahriye , Karabay Bayazit Aysun , Yuksel Bilgin

Introduction: Pseudohypoaldosteronism type II (PHA II) is an extremely rare disorder characterized by low plasma renin and aldosterone when a normal renal function with hypertension, hyperkalemia, and hyperchloremic metabolic acidosis. PHA II is also known as familial hyperkalemic hypertension or Gordon’s syndrome and is an inherited autosomal dominant. PHA II could be caused by pathogenic variants of WNK1, WNK4, KLHL3, and <em...

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hrp0095lb11 | Late Breaking | ESPE2022

Cortisol evaluation in 106 neonates born from mothers using corticosteroids during pregnancy. Proposal for practical approach in clinical practice.

Snijder P.M. , Brandsma AE , van Wijk CAM , Baartmans MGA , van der Heyden JC , van den Akker ELT , Sas TCJ

Context: Supra-physiological exogenous corticosteroids used during the last months of pregnancy may lead to temporary neonatal adrenal suppression. Little is known about the outcome of neonates from mothers who used corticosteroids during pregnancy.Objective: The evaluation of clinical symptoms and biochemical findings of adrenal suppression in neonates from mothers using corticosteroids during pregnancy.<p class="ab...

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hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

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hrp0095lb13 | Late Breaking | ESPE2022

Residual C-peptide secretion and glycemic control in pediatric patients with Diabetes Mellitus type 1

João Gaia Maria , Pedrosa Inês , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Introduction: Residual C-peptide secretion has been associated with less hypoglycemic events and lower glycemic variability in patients with Diabetes Mellitus type 1 (DM1), primarily in adults. The authors sought to evaluate the association between residual C-peptide secretion in pediatric patients with DM1 and glycemic control variables.Methods: Cross-sectional study conducted in a level II hospital, in DM1 patients you...

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hrp0095lb14 | Late Breaking | ESPE2022

A formula to simplify the screening fot impaired glucose tolerance in youths with overweight or obesity.

Di Bonito Procolo , Rosaria Licenziati Maria , Gabriela Wasniewska Malgorzata , Corica Domenico , Di Sessa Anna , Miraglia del Giudice Emanuele , Morandi Anita , Maffeis Claudio , Felicia Faienza Maria , Mozzillo Enza , Calcaterra Valeria , Maltoni Giulio , Valerio Giuliana

Aim: To develop a low cost formula as screening tool for identifying youths with overweight/obesity (OW/OB) at risk for impaired glucose tolerance (IGT).Methods and results: A retrospective observational study was performed in 1189 Caucasian youths with OW/OB aged 5-17 years, in whom information about family history for diabetes (FD), fasting glucose (FG), 2-hour glucose levels post-oral glucose tolerance test, alanine a...

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hrp0095lb15 | Late Breaking | ESPE2022

Examining Sedentary and Activity Status Predictors in Adolescents and Their Implications for Diabetes Prevention

Balhara Maria

Background: Physical activity (PA) has been conclusively shown to reduce the incidence of diabetes in prior research. A 2,000 steps/day increment yielded hazard ratio (HR) 0.88 for incidence of diabetes 95% CI 0.78–1.00; P=0.046 (Garduno, 2022). Despite this, the role of different factors associated with higher adolescent after-school PA is understudied after the coronavirus pandemic, during which a greater proportion of parents worked remotely....

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hrp0095lb16 | Late Breaking | ESPE2022

Glucose variability in 6–12-month-old healthy infants

Hauschild Michael , Monnard Cathriona , L. Eldridge Alison , Hansen Erik , A. Dwyer Andrew , Rytz Andreas , Darimont Christian

Background: Continuous glucose monitoring (CGM) devices are novel tools to measure the impact of dietary intake on glucose rhythms/metabolism in children. There is a significant gap in the literature on glycemic response in healthy, term infants and young children up to 2 years of age.Objective: To investigate glucose excursions in response to infant feeding, using CGM in healthy 6–12-month-old infants.<p class...

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hrp0095lb17 | Late Breaking | ESPE2022

Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers

Shishkov Savi , Tuccillo Luigi , Iotova Violeta , Pivonello Rosario , Pelsma Iris , Pereira Alberto , Biermasz Nienke

Rare endocrine conditions present specific diagnostic and management challenges to healthcare providers, especially regarding transition. Despite the need for practical guidance on this subject, consensus on structured approaches to transition are lacking. The aim was to map the current clinical practice, and identify the unmet needs regarding transition of care for patients with pituitary disease in the reference centers (RCs) of the European Reference Network on Rare Endocri...

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hrp0095lb18 | Late Breaking | ESPE2022

Efficacy of liquid-chromatography and radioimmunoassay in false-positives’ drop-off in CAH newborn screening

Carvalho Daniel , Lima-Valassi Helena , Alves Atecla , Miranda Mirela , Rodrigues Andressa , Hayashi Giselle , Madureira Guiomar , Steinmetz Leandra , Damiani Durval , Mendonca Berenice , Bachega Tania

The high rate of false-positive (FP) results in congenital adrenal hyperplasia newborn screening (CAH-NBS) worldwide challenges NBS-programs and reinforces the need of high specificity subsequent tests. Few studies assessed the efficacy of different serum steroids by the available methodologies. Serum 21-deoxycortisol-21DF demonstrated a high diagnostic accuracy in CAH children/adults but was not evaluated in the NBS context. Objective: to evaluate the efficacy of confirmatory...

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hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

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hrp0095lb20 | Late Breaking | ESPE2022

A Structured Education Program on Hormonal Control and Quality of Life in Congenital Adrenal Hyperplasia: a study in Indonesia

Utari Agustini , Ediati Annastasia , Zulfa Juniarto Achmad , Dewi Ariani Mahayu , Mostert Saskia , Neni Sitaresmi Mei , E Van Herwaarden Antonius , LS Drop Stenvert , L Claahsen-van der Grinten Hedi , MH Faradz Sultana

Background: Classic Congenital Adrenal Hyperplasia (CAH) needs life-long treatment of glucocorticoids. Compliance with long-term medication is still challenging, particularly in developing countries. However, there has been no prospective study about the strategy to improve compliance in CAH and its relationship with hormonal control and quality of life (QoL) in CAH, especially in underprivileged countries such as Indonesia. This study aimed to determine the r...

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hrp0095lb21 | Late Breaking | ESPE2022

Glucose levels are not the same for everyone: A real-world big data study evaluating glucose levels by sex and age among children

Avnon Ziv Carmit , Banon Tamar , BenTov Amir , Aeurbach Adi , Hirsch Harry , Levy Khademi Floris

Purpose: Understanding the normal range of laboratory values as pertained to different age groups and males or females is paramount in health care delivery. We aimed to assess the distribution of glucose levels by age and sex in the general population of children using a large-scale population-based cohort.Methods: A retrospective study with real-world de-identified data from a large, state mandated health fund in Israel...

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hrp0095lb22 | Late Breaking | ESPE2022

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

E. Bianco Monica , Hai My , Scholtens Denise , Josefson Jami , Lowe William , Jr

Background: Maternal triglycerides, fatty acids, and their metabolites together with sugars and metabolic intermediates may play a role in newborn outcomes. Furthermore, maternal amino acids, acylcarnitines, lipids and fatty acids and their metabolites are associated with cord C-peptide independent of maternal BMI and glycemia, highlighting the potential contribution of maternal metabolites to offspring outcomes. This study examined the associations of materna...

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hrp0095lb23 | Late Breaking | ESPE2022

Ten years of growth hormone treatment in children born small for gestational age with persistent short stature- results of a Portuguese multicenter study

Diamantino Catarina , Caetano Francisco , Luísa Leite Ana , Costa Carla , Vieira Paula , Novais Sandrina , Borges Teresa , Pereira Carla

Background: Growth hormone (GH) treatment is indicated for children who are born small for gestational age (SGA) and fail to achieve sufficient catch-up growth during infancy and remain short throughout childhood.Aims: To evaluate the effect of GH treatment in a large, multicentric, Portuguese SGA children cohort and to analyze for correlation between GH treatment response and clinical factors.<str...

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hrp0095lb24 | Late Breaking | ESPE2022

“Precocious Puberty and Rapidly Progressive Puberty During The Covid-19 Pandemic”

Suarez Melissa , Geniuk Nadia

Introduction: During the COVID-19 pandemic, we have seen an increase in consultations for Precocious puberty (PP) and accelerated puberty.Aim: To assess the frequency of PP and its progression before and during the pandemic.Materials and Methods: We retrospectively evaluated the patients's medical records referred to a Paediatric Endocrinolgy Unit between April 2018-March 2021...

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hrp0095lb25 | Late Breaking | ESPE2022

Challenges of Gender Assignment in Disorder of Sex Development (DSD) in Developing Countries

Aftab Sommayya , Manzoor Jaida , Shaheen Tahir , Hira Noore , Talat Nabila , Bilal Muahmmad , Iqbal Nasir Sajid , Tahir Warda , Usama Aziz Muhammad , Bari Attia , Ullah Ehsan , Mansoor Bugvi Saima , Bashir Shabnam , Akber Maida

Background: Gender assignment in children with disorder of sex development (DSD) is a key step in their management and needs detailed assessment. In developing countries, children with DSD are often presented late, due to lack of awareness and social stigmatization, which makes management more challenging.Methodology: Retrospective review of complex DSD cases (karyotyping different from current sex of rearing), presented...

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ESPE Abstracts

60th Annual ESPE (ESPE 2022)

Poster Category 1

Amenorrhea in an Anorexia Nervosa patient as a presenting symptom of Cushing’s disease.

Aromatase deficiency due to novel CYP19A1 mutation: A rare cause of maternal virilization and atypical genitalia.

High Glycated Hemoglobin instead of High Body Mass Index Might Increase the Urine N-acetyl-β-D-glucosaminidase Concentration in Children and Adolescents with Diabetes Mellitus

The association between glycated albumin and HbA1c in pediatric acute leukemia patients

Incidence and Severity of Type 1 Diabetes Mellitus during COVID-19 Pandemic

A case series of two adolescent diabetic siblings due to novel mutation in CFAP126

Stretched Penile Length Nomogram in Prepubertal Egyptian Children Aged Five to Nine years

Prevalence and Factors Associated with Hypothyroidism in Children with Sickle Cell Anemia Aged 6 Months -17 Years Attending the Sickle Cell Clinic, Mulago Hospital, Mg anda; A cross-sectional study

Novel CUL3 Variant in Pseudohypoaldosteronism Type 2

Cortisol evaluation in 106 neonates born from mothers using corticosteroids during pregnancy. Proposal for practical approach in clinical practice.

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Residual C-peptide secretion and glycemic control in pediatric patients with Diabetes Mellitus type 1

A formula to simplify the screening fot impaired glucose tolerance in youths with overweight or obesity.

Examining Sedentary and Activity Status Predictors in Adolescents and Their Implications for Diabetes Prevention

Glucose variability in 6–12-month-old healthy infants

Mapping of the current transition of care practice for patients with pituitary disease at Endo-ERN reference centers

Efficacy of liquid-chromatography and radioimmunoassay in false-positives’ drop-off in CAH newborn screening

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

A Structured Education Program on Hormonal Control and Quality of Life in Congenital Adrenal Hyperplasia: a study in Indonesia

Glucose levels are not the same for everyone: A real-world big data study evaluating glucose levels by sex and age among children

Maternal and Cord Blood Metabolites Associations with Childhood Glucose Outcomes in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.

Ten years of growth hormone treatment in children born small for gestational age with persistent short stature- results of a Portuguese multicenter study

“Precocious Puberty and Rapidly Progressive Puberty During The Covid-19 Pandemic”

Challenges of Gender Assignment in Disorder of Sex Development (DSD) in Developing Countries

BiosciAbstracts