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...

hrp0092p1-162 | Adrenals and HPA Axis (1) | ESPE2019

Evaluation of Molecular Characteristics and Steroid Metabolomics in a Large Cohort of Children with 3β-Hydroxysteroid Dehydrogenase 2 Deficiency

Guran Tulay , Kara Cengiz , Yildiz Melek , Bitkin Eda C. , Haklar Goncagul , Lin Jen-Chieh , Gilligan Lorna C. , Barnard Lise , Keskin Mehmet , Anik Ahmet , Catli Gonul , Guven Ayla , Kirel Birgul , Tutunculer Filiz , Onal Hasan , Turan Serap , Akcay Teoman , Atay Zeynep , Baranowski Elizabeth S. , Yilmaz Gulay C. , Mamadova Jamala , Akbarzade Azad , Sirikci Onder , Aghayev AghaRza , Alkan Afra , Shackleton Cedric H.L. , Storbeck Karl H. , Baris Tugba , Arlt Wiebke , Chung Bon-Chu , Bereket Abdullah

Context: Deficiency of 3β-hydroxysteroid dehydrogenase 2 (3βHSD2) causes a very rare form of congenital adrenal hyperplasia (CAH) known as 3βHSD2 deficiency, which is a consequence of biallelic HSD3B2 gene defects. The estimated prevalence is less than 1/1,000,000 live births. Knowledge of comprehensive steroid metabolome patterns in 3βHSD2 deficiency is scarce.Objective: We aimed...

hrp0084p1-144 | Miscelleaneous | ESPE2015

Primary Adrenal Insufficiency in Children without Congenital Adrenal Hyperplasia: Molecular and Clinical Characterisation of a Nationwide Cohort

Guran Tulay , Buonocore Federica , Saka Nurcin , Ozbek Mehmet Nuri , Aycan Zehra , Bereket Abdullah , Bas Firdevs , Darcan Sukran , Bideci Aysun , Turan Serap , Guven Ayla , Tarim Omer , Agladioglu Sebahat Yilmaz , Atay Zeynep , Ozen Samim , Demir Korcan , Akinci Aysehan , Aydin Banu Kucukemre , Buyukinan Muammer , Yuksel Bilgin , Yildiz Metin , Akcay Teoman , Kara Cengiz , Ozgen Tolga , Catli Gonul , Isik Emregul , Bolu Semih , Ozhan Bayram , Gurbuz Fatih , Ucar Ahmet , Demirbilek Huseyin , Abali Zehra Yavas , Doger Esra , Eren Erdal , Berberoglu Merih , Hacihamdioglu Bulent , Achermann John C.

Background: Primary adrenal insufficiency (PAI) is a potentially life-threatening condition that requires accurate diagnosis and urgent treatment. Congenital adrenal hyperplasia is the most common cause of PAI in children. Non-CAH causes of PAI are relatively rare. Although several molecular causes have been found, it is emerging that considerable overlap in the clinical and biochemical features of these conditions exists.Objective and hypotheses: We inv...

hrp0097p1-207 | Adrenals and HPA Axis | ESPE2023

Health-Related Quality of Life in Children with Congenital Adrenal Hyperplasia: A Systematic Review and Meta-Analysis

Seneviratne Sumudu , Gunawardena Shamaali , Jayarajah Umesh , Ahmed Faisal

Introduction: Congenital adrenal hyperplasia (CAH) is a lifelong condition associated with long term medical and psychosocial issues, which can adversely affect Quality of Life (QoL). There is paucity of high-grade evidence on health-related QoL in children and adolescents with CAH, with available studies being limited by small study samples. We conducted a systematic-review(SR) and meta-analysis(MA) to assess factors associated with health-related QoL among c...

hrp0086p2-p686 | Growth P2 | ESPE2016

Neonatal Characteristics of GH Deficiency in 107 Children

Fedala Nora Soumeya , Haddam Ali El Mahdi , Meskine Djamila

Background: GH deficiency (GHD) rarely reveals at birth. Pregnancy is proceeding normally. The size and weight are generally normal and the birth occurs at terms. In some cases, neonatal markers and other pituitary deficits are present and allow early diagnosis.Objective and hypotheses: Report neonatal characteristics of GHD.Method: 107 children GHD were followed. The interrogation noted the progress of pregnancy, childbirth, weigh...

hrp0084p3-730 | Diabetes | ESPE2015

β-Cells’ Functional Exhaustion at Type 1 Diabetes Onset may Lead to Early Microvascular Complications

Papadopoulou Nektaria , Dacou-Voutetakis Catherine , Chrousos George , Kanaka-Gantenbein Christina

Background: Diabetic ketoacidosis (DKA) is a severe and often the inaugural clinical manifestation of type 1 Diabetes (T1D). Diabetic nephropathy is one of the most devastating chronic complications of T1D and its’ early diagnosis is traditionally based on microalbuminuria.Objective and hypotheses: The aim was to investigate the possible associations between the initial clinical manifestations and the chronic complications of T1D.<p class="abste...

hrp0094p2-140 | Diabetes and insulin | ESPE2021

HbA1c of T1DM Patients before and after Transition - Single Center Experience

Al Harthy Rand , Al Kindi Fatma , Al-Shidhani Azza , Alfutaisi Abdallah , Al Mamari Ali , Alyaarubi Saif , Alsaffar Hussain ,

Introduction: More than 1.1 million children and adolescents are living with Type 1 diabetes mellitus (T1DM) in 2019 worldwide1. Transition period is considered a crucial phase in management of T1DM, where movement of adolescents to adult health care is initiated. During this period, physical, psychological and behavioral changes may make this interval becoming more challenging by which diabetes management can be affected. HbA1c worsening was report...

hrp0086p2-p574 | Perinatal Endocrinology P2 | ESPE2016

Use of a Cord Blood F-Dex Monocyte Binding Assay to Study the Glucocorticoid Sensitivity in Premature Neonates

Madubuko Adaora , Giuliano Michael , Al-Khan Abdulla , Alvarez Manuel , Alvarez-Perez Jesus , Balboul Sarah , Aisenberg Javier , Ghanny Steven

Background: Glucocorticoids play an important role in the developing fetus; the most important of which is lung maturation by increasing surfactant production and release. Glucocorticoid receptor (GR) functioning changes throughout the fetal period, especially during the transition to extrauterine life. Given the importance of glucocorticoids in lung development and functioning, studying glucocorticoid sensitivity (GS) in this population would be helpful, especially in the pre...

hrp0086p2-p860 | Syndromes: Mechanisms and Management P2 | ESPE2016

Referral Pattern of Children with Short Stature to a Pediatric Endocrine Clinic in Kuwait

Al-Abdulrazzaq Dalia , Al-Taiar Abdulla , Hassan Kholoud , Al-Twari Basma , Al-Osaimi Abdulaziz , Al-Busairi Iman

Background: Short stature is a prominent complaint for which children are referred to pediatric endocrinologists. Data on short stature is lacking in the Arab states in the gulf region despite the fact that treatment is easily accessible. The study aimed to describe the referral pattern, baseline characteristics, and etiological profile of children referred with short stature to a pediatric endocrine clinic in Kuwait.Method: This is a cross-sectional ret...

hrp0084p1-97 | Growth | ESPE2015

High Frequency of Hypomorphic Allelic Haplotypes of the gh1 Proximal Promoter in Patients with Proportional Undergrowth and Isolated GH Deficiency

Campos-Barros Angel , Gomez-Nunez Ana , Zurita-Munoz Olga , Gallego-Gomez Elena , Cruz-Rojo Jaime , Garzon Lucia , Luzuriaga-Tomas Cristina , Riano-Galan Isolina , Bezanilla-Lopez Carolina , Donate-Legaz Jose Maria , Marban-Calzon Mercedes , Ruperez Sara , Hermoso Florinda , Lara-Orejas Emma , Borras-Perez Ma Victoria , Rius-Peris Jose Manuel , Garcia-Cuartero Beatriz , Gonzalez-Casado Isabel

Background: Although isolated GH deficiency (IGHD) is one of the most frequent causes of postnatal proportional undergrowth, up to 85–90% of IGHD cases are still classified as idiopathic. On the other hand, previous reports identified up to 40 different GH1 proximal promoter haplotypes, some of which show hypomorphic effects, significantly reducing GH1 expression levels.Objective and hypotheses: To investigate the frequency of ...