hrp0086rfc14.4 | Growth : Mechanisms | ESPE2016

Genetic Diagnosis of Congenital Growth Hormone Deficiency by Massive Parallel Sequencing Using a Target Gene Panel

Nakaguma Marilena , de Lima Jorge Alexander Augusto , de Assis Funari Mariana Ferreira , Lerario Antonio Marcondes , de Azevedo Correa Fernanda , de Carvalho Luciani Renata Silveira , de Mendonca Berenice Bilharinho , Arnhold Ivo Jorge Prado

Background: Congenital GH deficiency (GHD) can be isolated (IGHD) or combined with other pituitary hormone deficiencies (CPHD). The identification of mutations has clinical implications for the management of patients and genetic counseling1.Objective: To prospectively conduct a molecular-genetic analysis in genes associated with IGHD or CPHD.Method: Forty patients with IGHD (n=8) or CPHD (n=32) were stu...

hrp0082lbp-d3-1009 | (1) | ESPE2014

Family Studies of CYP21A2 Gene Identify Different Haplotypes for Nonclassical 21-Hydroxylase Deficiency in Brazilian Population

de Paula Michelatto Debora , Grimaldi Larissa Magalhaes , Alpiste Marcel Costa , Baptista Maria Tereza Matias , Guerra-Junior Gil , Valente de Lemos-Marini Sofia Helena , Palandi de Mello Maricilda

Background: Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of cases are caused by a deficiency of the 21-hydroxylase enzyme. Its deficiency leads to androgen excess, consequently, to virilization and rapid somatic growth with accelerated skeletal maturation. Mutations in CYP21A2 are responsible for different forms of 21-hydroxylase defi...

hrp0092p2-99 | Diabetes and Insulin | ESPE2019

A Case of Neonatal Diabetes Due to Newly Defined Mutation in the GLIS 3 Gene

Kor Yilmaz , Demet Akbas Emine , De Franco Elisa

Introduction: GLIS3 is a member of the GLI-similar zinc finger protein family encoding for a nuclear protein that maps to chromosome 9p24.3-p23. Mutations in GLIS3 have been reported in association with Neonatal diabetes mellitus and hypothyroidism syndrome. We aimed to present a case of congenital diabetes mellitus congenital hypothyroidism associated with a newly identified mutation in the GLIS-3 gene.Case Report: A se...

hrp0092p3-199 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Prolactinomas in a Pediatric Population

de Beldjenna Liliana Mejia , Vanegas Sara , Audrey Matallana , Siuffi Mirey

Introduction: Prolactinoma is the most frequent pituitary tumor (40 %) in children and adolescents is more common in females, sporadic and benign. It is classified into microprolactinoma (< 1.0 cm) and macroprolactinoma (>1.0 cm). In girls it presents clinically as amenorrhea and galactorrhea and occasionally as increased intracranial pressure. Management consist of medications and surgery.Objectives: To char...

hrp0092p3-321 | Late Breaking Abstracts | ESPE2019

Hydrometrocolpos Due to Congenital Adrenal Hyperplasia – A Rare Cause of Bladder Outflow Tract Obstruction in a Female Child

Suntharesan Jananie , Atapattu Navoda , Gunasekara Buddhi , De silva Dimarsha

Introduction: Hydrometrocolpos (HMC) develops in a female child as a result of a vaginal outflow tract obstruction and accumulation of secretions. HMC can have associated with other malformations or associated syndromes. Imperforated hymen, vaginal atresia, persistent urogenital sinus, and cloacal malformation, are the common causes for HMC. Congenital adrenal hyperplasia causing androgen exposure during the fetal life leads to varying degree of ambiguous geni...

hrp0089p2-p145 | Fat, Metabolism and Obesity P2 | ESPE2018

The Effect of Exclusive Breastfeeding and Formula Feeding on Body Composition During the First Two Years of Life

de Fluiter Kirsten , Acton Dennis , Hokken-Koelega Anita

Background: Early gain in fat mass (FM) might be influenced by type of feeding. Excessive gain in FM during the first three months of life is associated with an increased risk for adiposity and cardiovascular diseases. This three-month period is also known as the critical window for adiposity programming.Aims: To investigate differences in body composition between exclusively breastfed (BF) and formula fed (FF) infants from birth to 24 months.<p clas...

hrp0089p3-p135 | Fat, Metabolism and Obesity P3 | ESPE2018

Cut-off for the Follow-up of Obese Children: Cynicism or Realism?

Gallo Francesco , De Quarto Giuditta , Lonero Antonella , Moramarco Fulvio

The majority of treated obese children fail the goals set in the medium-long term or do not show themselves up at the short term follow up. These results, which do not improve even with the proliferation of facilities aimed to the treatment of obesity and of its complications, pose serious questions on how to make the best use of scarce resources available by the National health system. We have visited, between 2013 and 2015, 378 seriously obese children (>2 DS from nation...

hrp0089p2-p337 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

A Case of Testotoxicosis Due to a Constitutive Mutation of the LH Receptor Initially Presented as a Central Precocious Puberty at 3 Years Old

Porquet-Bordes Valerie , Pienkowski Catherine , Roux Nicolas de

Background: A thirty-four months old boy was referred for precocious puberty. He was the first child of healthy non-consanguineous parents. His family history was unremarkable. He had no exposure to oestrogenic endocrine-disrupting chemicals. He had presented secondary sexual characteristics for five months: pubic hair, enlarged testicular volume to 6 ml (Tanner stage P2A1G2) and enlarged penile size. He had a deepening voice and aggressive behavior. He had a significant growt...

hrp0086rfc12.2 | Neuroendocrinology | ESPE2016

A Novel Mutation of KISS1R Causing a Normosmic Isolated Hypogonadotropic Hypogonadism

Yoshii Keisuke , Hugon-Rodin Justine , Gompel Anne , de Roux Nicolas

Background: Loss of function mutations in KISS1R, which encodes kisspeptin receptor have been reported in very few patients with normosmic isolated hypogonadotropic hypogonadism (nIHH).Objective and hypotheses: To describe the phenotype of the nIHH female patient with a novel homozygous KISS1R mutation and to characterize functionally this mutation. The patient was a 28 year-old Senegalese woman with primary amenorrhea. She was the seco...

hrp0086p1-p121 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Computer-assisted Diagnosis of Dyschondrosteosis Based on Skeletal X-ray Geometry

Filippo Gianpaolo De , Quintus Fabien , Hejblum Gilles , Bougneres Pierre

Background: Bone X-rays provide the main diagnostic parameters for chondrodysplasia, including common dyschondrosteosis (DC). Skeleton is usually studied piece by piece by visual analysis in search of characteristic signs. The phenotypic spectrum of DC is large. Indeed, children who have seemingly idiopathic short stature (ISS) may have subtle forms of DC that can be unrecognized.Objectives: Provide a user-friendly computer-assisted program that facilita...