hrp0098p1-179 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

A 31-year referral center experience in pediatric growth hormone secreting pituitary adenomas.

Ibañez Valentina , Olave Consuelo , Cardenas Paola , Robles Constanza , Castaño Luis , Martinez de la Piscina Idoia , Wohllk Nelson , Rojas David , Hernandez Maria

Introduction: Pituitary gigantism in children is a rare condition that results from excessive production of growth hormone (GH). The most common cause of gigantism is GH secreting pituitary adenomas, thart arise from excessive proliferation of somatotropic cells in the anterior portion of the pituitary gland. The described pediatric incidence is 3-8 cases per 1 million population. There are genetic syndromes associated with GH excess, especially in pediatric p...

hrp0084p3-770 | Diabetes | ESPE2015

Particularités de la prise en charge du diabète Type 1 chez des enfants dont la révélation est survenue avant l’âge de five ans

Wafaa Mazari , Khadidja Bouriche , Djawida Senouci , Yasmine Zerga , Snaa Chiali , Salih Bendeddouche

Introduction: Le diabète de type 1 est l’endocrinopathie la plus fréquente chez l’enfant. Son incidence est en nette progression dans le monde. L’enfant diabétique nécessite une hygiène de vie adaptée et le suivi par une équipe pluridisciplinaire composée de pédiatre spécialiste en diabétologie, psychologue, diététicien, infirmier spécialisé.Objectif: Determiner les...

hrp0094p1-81 | Pituitary A | ESPE2021

Sporadic pituitary adenomas in young patients: clinical and molecular description

de LaPiscina Idoia Martinez , Portillo Nancy , Rica Itxaso , Gaztambide Sonia , Castano Luis ,

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic scr...

hrp0097p1-514 | Growth and Syndromes | ESPE2023

Addition of genetic workup in children with isolated short stature to improve the diagnostic yield for growth hormone treatment

Martinez de Lapiscina Idoia , Zürcher Matthias , Saner Christoph , E. Flück Christa

Introduction: Short stature is a common finding that affects per definition about 3% of the population. Isolated, severe short stature may be treated successfully with recombinant human growth hormone (rhGH). Currently, rhGH is offered to short children with specific disorders or biochemically proven growth hormone deficiency (GHD). However, biochemical testing for GHD is artificial and therefore controversial. Adding genetic testing may improve the diagnostic...

hrp0097p1-565 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Insights into pubertal development among individuals with NR5A1/SF-1 variants: Results from the international SF1next study

Kouri Chrysanthi , Sommer Grit , Martinez de LaPiscina Idoia , E. Flück Christa

Background: NR5A1/SF-1 variants result in a wide range of phenotypes including DSD, male infertility, and primary ovarian insufficiency (POI). Little is known of how NR5A1/SF-1 variants affect puberty in individuals with or without DSD. This study aimed to assess the impact of NR5A1/SF-1 variants on pubertal development and investigate whether abnormal puberty is linked to the severity of DSD in an international cohort with NR5A1...

hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

hrp0095fc6.5 | Sex Development and Gonads | ESPE2022

Phenotypes in a large international cohort of individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Martinez de Lapiscina Idoia , Tack Lloyd , Cools Martine , E Flück Christa , study group SF1next

Background: Loss of function variants in Steroidogenic Factor 1 (NR5A1/SF-1) lead to a broad spectrum of phenotypes, but data on the whole picture of phenotypes are currently lacking. We aimed to investigate the phenotype of individuals with SF-1 variants in a large international cohort.Methods: We identified the individuals through the international I-DSD network and through contacting researchers from previous publicat...

hrp0089p3-p400 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Clinical and Molecular Characterization of One Nr5a1 Gene Mutation Found in a Patient WITH 46, XY DSD

Vela Amaya , Lapiscina Idoia Martinez De , Nanclares Gustavo Perez De , Amaia Rodriguez , Rica Itxaso , Castano Luis , Grau Gema

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

hrp0086p1-p909 | Thyroid P1 | ESPE2016

Identification of a “Cryptic” De Novo Deletion in NKX2.1 in the Brain-Lung-Thyroid Syndrome using Genomic SNP Arrays

Villafuerte Beatriz , de Benito Daniel Natera , Lacamara Nerea , Garcia Marta , Lumbreras Cesar , de Randamie Rajdee , Nevado Julian , Moreno Jose Carlos

Background: Genetic defects in NKX2.1 (chromosome 14q13) are associated with hypothyroidism, choreo-athetotic movements and respiratory distress, known as the “Brain-Lung-Thyroid syndrome”.Objective and hypotheses: To identify the genetic basis of a disorder compatible with the “NKX2.1 syndrome” and extra features outside the typical triad.Patients and methods: 10-year old girl with congenital ...

hrp0092p2-46 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Seasonal 25-hydroxy Vitamin D3 Variations in School-aged Children from Santiago de Chile

Poggi Helena , Dominguez Gonzalo , Monica Arancibia , Moore Rosario , D'Apremont Ivonne , Solari Sandra , Allende Fidel , Sifaqui Sofia , Garcia Hernan , Martinez-Aguayo Alejandro

Introduction: The main role of Vitamin D (VitD) is the regulation of calcium, which is also regulated by the parathyroid hormone (PTH), and phosphate metabolism. The main source of the more biologically active 25-hydroxy-Vitamin D3 (25OHVitD3) comes from the action of ultraviolet light on the skin.Aim: To determine if there are differences in concentrations of 25OHVitD3, calcium and PTH in school-aged children throughout...