hrp0092rfc15.2 | Late Breaking Abstracts | ESPE2019

BMP4 Mutations as a Novel Cause of Normosmic Hypogonadotropic Hypogonadism

Topaloglu A. Kemal , Yildirim Ruken , Damla Kotan Leman , Akkus Gamze , Unal Edip , Turan Ihsan , Dilek Semine , Tastan Mehmet , Gurbuz Fatih , Yuksel Bilgin

BMP4, a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily, is involved in the embryonic development of various organ and tissues including the cranio-facial structures, olfactory placode, pituitary, eyes, heart, and kidneys. Mutations in this gene are associated with orofacial cleft and microphthalmia in human patients. BMP4 plays an important role in the embryonic development of the GnRH neurons ...

hrp0086p1-p455 | Fat Metabolism and Obesity P1 | ESPE2016

Seven-year Follow-up of Mothers from a Randomized Controlled Trial of Exercise in Pregnancy and their Offspring

Chiavaroli Valentina , Hopkins Sarah , Derraik Jose , Seneviratne Sumudu , Biggs Janene , Rodrigues Raquel , Cutfield Wayne , Hofman Paul

Background: We have previously shown in a randomised controlled trial that moderate-intensity exercise over the last 20 weeks of gestation in healthy nulliparous women led to a birth weight reduction of approximately 250 g.Objective and hypotheses: We aimed to assess the long-term effects of exercise in pregnancy on anthropometry and body composition in mothers and offspring 7 years after the intervention. We hypothesized that women who exercised in preg...

hrp0094p2-33 | Adrenals and HPA Axis | ESPE2021

Congenital Adrenal Hyperplasia with a CYP21A2 deletion overlapping Tenascin-X gene

Rodrigues Ivo Catarina , Fitas Ana Laura , Madureira Ines , Diamantino Catarina , Gomes Susana , Goncalves Joao , Lopes Lurdes ,

Introduction: Congenital Adrenal Hyperplasia (CAH) is a group of genetic diseases characterized by impaired cortisol synthesis. 95% of CAH cases result from mutation in the CYP21A2 gene encoding 21-hydroxilase. TNX-B gene partially overlaps CYP21A2 and encodes a matrix protein called Tenascin-X (TNX). Complete tenascin deficiency causes Enlers-Danlos syndrome (EDS). A variant called CAH-X, has recently been described, resulting from CYP21...

hrp0094p2-75 | Bone, growth plate and mineral metabolism | ESPE2021

Afebrile seizure in a toddler girl with alopecia: a case report

Crisostomo Mafalda , Simoes Joana , Canteiro Rodrigues Claudia , Galhardo Julia , Lopes Lurdes ,

Background: Calcium homeostasis is primarily regulated by vitamin D. In the absence of the active hormone or a functional receptor, bones are inadequately mineralized, leading to the development of rickets. Vitamin D-dependent rickets type 2 (VDDR2) is a rare autosomal recessive disorder caused by mutations in the vitamin D receptor (VDR) gene.Case Report: A 12-months-old girl was transported to the local hospital ED with a three-minute ...

hrp0092rfc1.4 | Diabetes and Insulin Session 1 | ESPE2019

Estimation of Mody Frequency and Prevalent Subtypes in Pediatric Patients by Targeted NGS

Salamanca Luis , Kadaoui Maria Al , Guerrero Julio , Carcavilla Atilano , Itza Nerea , Mora Cristina , Barreda Ana Coral , Dominguez Jesús , Vallespín Elena , Pozo Angela Del , Solis Mario , Aragonés Angel , Hermoso Florinda , Ramirez Joaquín , Teresa Muñoz Maria , Garzón Lucía , Rodriguez Amparo , Escribano Arantxa , Gonzalez Isabel , Campos Angel

Though up to fourteen different MODY subtypes have been so far described, there are no studies in the literature which have determined their actual frequency and prevalence in pediatric patients.Objectives: To identify the underlying molecular basis in a cohort of pediatric patients with a suspected clinical diagnosis of MODY by targeted NGS.Materials/Methods: Cohort of 60 patient fulfilling MODY c...

hrp0084p2-257 | Diabetes | ESPE2015

Developing a Targeted, Mobile-Health Technology (E-Book) to Promote Self-Care During Diabetes Transition

Dwyer Andrew , Unal Samaita , Emmanouilidis Severine , Aquarone-Vaucher Marie-Paule , Pichard Silvia , Gyuriga Teresa , Korpes Joelle , Jornayvaz Francois , Gonzalez-Rodriguez Elena , Elowe-Gruau Eglantine , Stoppa Sophie , Zanchi-Delacretaz Anne , Puder Jardena , Amati Francesca , Bouthors Therese , Phan-Hug Franziska , Pitteloud Nelly , Hauschild Michael

Background: For young adults with type 1 diabetes, transition from a paediatric setting to an adult care setting is a vulnerable period with risks for gaps in care. These emerging adults need to develop skills for managing their diabetes yet it is often challenging to cover all anticipatory guidance topics related to type 1 diabetes. In the context of a structured transition clinic, we hypothesized that by leveraging teens’ facility with technology and marketing/design we...

hrp0094p2-480 | Thyroid | ESPE2021

TBG deficiency and Central Congenital Hypothyroidism (CCH): Our experience in neonatal screening with TSH and T4

Chueca Maria J. , Grau Gema , Bertholt Laura , Artola Elena , Fernández Concepción , Sarasua Ainhoa , Rodriguez Amaia , Vela Amaia , Belza Amaia , Berrade Sara , Dura Teodoro , Alonso Pablo , Puges Laura , Diez Ignacio , Espada Mercedes , Ederra Maria , Ascunce Nieves , Porras Begoña , Rica Itxaso

Objective: Analyze CCH detection program results from 3 Autonomous Communities: TSH and total T4 (TT4) in dried blood spot (DBS) at initial screening (48 hours of life) and at retesting. Describe the characteristics of neonates with screening compatible with CCH. Consider whether TBG deficiency (TBGD) is an added difficulty in said study.Materials and Methods: Retrospective study (May 2016-May 2020) of all neonates ≥33 weeks and/or ≥1500 gr...

hrp0097p1-584 | Thyroid | ESPE2023

National multi-center study of reevaluation of thyroid function in premature infants of less than 32 weeks of gestation and/or less than 1500g admitted to neonatal units

Campos-Martorell Ariadna , Ares Segura Susana , J Chueca Gandulain Maria , Grau Bolado Gema , Navarro Constanza , Serrano Costa Loreto , Gale Pola Ines , Fernandez Vallespin Laura , Pellicer Casanova Laura , Montaner Ramon Alicia , Puig Amoros Elisabet , Mora Sitja Marina , Rodriguez Amparo , Casano-Sancho Paula

Preterm and low birth weight(LBW) newborns are at risk of thyroid dysfunction during a critical period for neurodevelpment and this dysfunction can be missed in congenital hypothyroidism screening program(CHSP). Consequently, reassessment of thyroid function has been promoted in neonatal units, added to CHSP.Objectives: To evaluate prevalence and risk factors of thyroid dysfunction in≤32weeksGA and/or 1500g newborn, and compare differ...

hrp0097p1-257 | Fat, Metabolism and Obesity | ESPE2023

Risk Factors for becoming adult with obesity in survivors of childhoodcancer

Delacourt Laurene , Allodji Rodrigue , Chappat Juliette , Haddy Nadia , El-Fayech Chiraz , Demoor-Goldschmidt Charlotte , Journy Neige , Bolle Stephanie , Thomas-Teinturier Cécile , Zidane Monia , Rubino Carole , Veres Cristina , Vu-Bezin Giao , Berchery Delphine , Pluchart Claire , Bondiau Pierre-Yves , Dumas Agnès , Bougas Nicolas , Grill Jacques , Dufour Christelle , Fresneau Brice , Pacquement Helene , Diallo Ibrahima , Doz François , De Vathaire Florent

Purpose: The aim of this study was to identify risk factors for adult obesity in childhood solid cancer or lymphoma survivors (CCS).Patients and Methods: The study included 3199 patients of the French Childhood Cancer Survivor Study Cohort (FCCS) with 303 obese patients who had returned self-questionnaire. Analyses were adjusted on social deprivation index and sex.Results: CCS bein...

hrp0092fc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Loss-Of-Function and Missense Mutations in MYRF are a Novel Cause of Autosomal Dominant 46,XY Leydig Cell Hypoplasia and 46,XY Gonadal Dysgenesis

McElreavey Ken , Globa Evgenia , Bertalan Rita , Bignon-Topalovic Joelle , Brauner Raja , Bashamboo Anu

MYRF is known to regulate the myelination of the central nervous system and mice with a conditional deletion of MYRF in oligodendrocyte precursors has anomalies of motor skill. Recently, several loss-of-function and missense mutations in MYRF have been reported in association with syndromic forms of congenital heart disease (CHD) with elements of Scimitar syndrome and/or with congenital diaphragmatic hernia (CDH). In most 46,XY individuals a range of...