hrp0084p2-393 | GH & IGF | ESPE2015

Study of IGF1 Receptor Gene in Small for Gestational Age Patients with Short Stature Treated with RHGH

Ferrer Marta , de Arriba Antonio , de Zabarte Jose Miguel Martinez , Barrio Eva , Labarta Jose Ignacio

Background: IGF1 is essential for pre and postnatal growth. Mutations in IGF1 receptor (IGF1R) gene have been described in patients with intrauterine growth retardation and other anomalies.Objective and hypotheses: To study IGF1R gene in small for gestational age (SGA) patients with short stature and correlate the results with clinical presentation and response to rhGH treatment.Method: Longitudinal retrospective study of 69 SGA pa...

hrp0097p2-143 | Growth and Syndromes | ESPE2023

Improving detection of rare overgrowth syndromes referred to the endocrinology ward for analysis of acromegaly

van Essen Trui , Rosenberg Anna , de Herder Wouter , Jan van der Lelij Aart , de Graaff Laura

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

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...

hrp0097p2-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Precocious puberty: let's talk about the north of Algeria!!

Rouabah Nadira , Rouabah Hamza , Manaa Ardjouna , Bioud Belkacem

La puberté précoce est définie comme le développement des caractéristiques sexuelles avant l'âge de 8 ans chez les filles et de 9,5 ans chez les garçons. L'objectif de notre étude était de calculer la prévalence de la puberté précoce en consultation spécialisée et de décrire le profil clinique, paraclinique, étiologique et de prise en charge ainsi que la qua...

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...

hrp0095s7.3 | Insight into Metabolic disorders and new therapeutic targets | ESPE2022

Polycystic Ovary Syndrome in Adolescent Girls:Towards a Treatment Focusing on Ectopic Fat

Ibáñez Lourdes , de Zegher Francis

Polycystic ovary syndrome is the most common cause of hirsutism and menstrual irregularity in adolescent girls and young women. It is often accompanied by obesity and insulin resistance and is associated to lifelong co-morbidities, including subfertility, type 2 diabetes, non-alcoholic fatty liver disease, pre-menopausal cancer, depression, low health-related Qol, and pregnancy and offspring complications. PCOS in adolescent girls is commonly driven by fat excess in subcutaneo...

hrp0095p1-557 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pituitary tuberculosis and hypothalamic obesity can be reversed by prolonged anti-tuberculosis treatment

Rochtus Anne , Lagae Lieven , Vermeulen Francois , de Zegher Francis

Background and methods: Sellar and suprasellar tuberculomas are extremely rare in children and most often patients present with headache, vomiting, visual disturbances, and hypofunction of the pituitary gland. Here, we report a girl with hypothalamic obesity, that recovers after antituberculosis treatment.Findings: An 11-year old girl presented with headache, fever and anorexia that progressively evolved into an encephal...

hrp0095p2-138 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Hypoglycemia in children: Clinical experience of a tertiary care center

Gil Margolis Merav , Lilos Pearl , Phillip Moshe , de Vries Liat

Introduction: Hypoglycemia is a significant cause of morbidity in children, yet is challenging to diagnose and treat due to its heterogeneity.Aim: To describe the diagnoses and clinical characteristics of children with hypoglycemia referred to a tertiary pediatric center.Methods: This retrospective study included 155 children (86 males, aged 0-18 years) diagnosed with hypoglycemia ...

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...