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...

hrp0098p1-269 | Growth and Syndromes 4 | ESPE2024

Effect of treatment with Isotretinoin on early bone maturation: A Case Report

Scheidemantel Aline , Eduardo Cruvinel Pinto Luís , Junqueira Soares Gabriel , de Lima Carlesso Gabriela , Ricardo Azevedo Silva João , da Silva Almeida Karina , Cardoso-Demartini Adriane

Introduction: Isotretinoin is used for treatment of dermatological diseases, such as severe acne. It’s also recommended for treatment of high-risk neuroblastoma and pediatric medulloblastoma, but in these cases higher doses are necessary.Case report: A 12-year-old male patient with poorly differentiated embryonal origin carcinoma in the posterior fossa and implants in the neuroaxis. Next-generation sequencing genet...

hrp0098p2-52 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Current challenges in diagnosis, treatment, and follow-up of children with parathyroid hormone dysfunction – lessons learned from a cohort of children presenting with hypocalcaemia

Luzio Vaz Beatriz , Alveirinho Filipa , Simões João , Alves Eduarda , Laura Fitas Ana , Galhardo Júlia , Caetano Francisco , Diamantino Catarina , Limbert Catarina , Lopes Lurdes

Introduction: In hypoparathyroidism and pseudohypoparathyroidism, impaired parathyroid hormone (PTH) function leads to hypocalcaemia, often presenting in children with acute symptoms such as tetany, seizures, hyperreflexia. High-dose calcium supplementation is usually necessary. However, beyond severe symptoms relief, the primary goal of treatment should be to maintain serum calcium levels in the lower quartile of normal range, in order to prevent nephrocalcin...

hrp0098p2-201 | Multisystem Endocrine Disorders | ESPE2024

Assessment of genotype-phenotype correlation in children with pseudohypoparathyroidism

Roztoczyńska Dorota , Preizner-Rzucidło Ewelina , Corica Domenico , Januś Dominika , Janeczko Magdalena , Anna Wędrychowicz , Ossowska Magdalena , Małgorzata Waśniewska , Starzyk Jarzy

The cause of pseudo-hypoparathyroidism (PHP) is structural mutations or epigenetic modifications of the GNAS gene, which encodes the alpha subunit of the G protein.The aim: of the study is to compare the genotype of patients with GNAS mutation with their phenotype.Materials and Methods: 28 patients (16 F and 12 M) diagnosed with PHP were analyzed. Among them, 13 came from six unrelated Polish famil...

hrp0098p2-385 | Late Breaking | ESPE2024

Integrating Genetic Testing in the Evaluation of Boys with Central Precocious Puberty: A Portuguese Nationwide Study

Galo Elisa , Vidal Castro Sofia , Amaral Daniela , Espada Filipa , Brandão Carla , Luísa Leite Ana , Ferreira Sofia , Caetano Francisco , Cerqueira Rita , Limbert Catarina

Introduction: Precocious development of secondary sexual characteristics in both sexes indicates early reactivation of the hypothalamic-pituitary-gonadal axis, known as central precocious puberty (CPP). CPP should be considered in males under nine years old when testicular volume exceeds 4 milliliters. This condition is rare (1 male per 15 girls), and secondary causes must be promptly excluded due to the higher likelihood of intracranial pathology. Recent stud...

hrp0092p1-54 | Fat, Metabolism and Obesity | ESPE2019

Augmented Fibroblast Growth Factor 21 Serum Levels in Metabolic Disorders and Association With Endothelial Function in Childhood

Domouzoglou Eleni , Vlahos Antonios , Challa Anna , Papafaklis Michail , Tsatsoulis Agathocles , Michalis Lampros , Chaliasos Nikolaos , Naka Katerina

Introduction: Obesity and the metabolic syndrome (MetS) are linked to increased risk for endothelial dysfunction which is considered as the first step in the progression of cardiovascular disease. Fibroblast growth factor 21 (FGF21) is a protein with known effects on various metabolic pathways. In adults, the circulating blood levels of FGF21 have been associated with parameters of lipid/carbohydrate metabolism, and FGF21 is known to be increased in obesity. T...

hrp0092p1-2 | Adrenals and HPA Axis | ESPE2019

Software-assisted Analysis of the Urinary Steroid Metabolom in Treated Children with Classic Congenital Adrenal Hyperplasia

Kamrath Clemens , Hartmann Michaela F. , Wudy Stefan A.

Background: Treatment of children with classic congenital adrenal hyperplasia (CAH) is a difficult balance between hypercortisolism and hyperandrogenism. Biochemical monitoring of treatment is not well defined.Objective: Retrospective software-assisted analysis of urinary steroid metabolome analysis obtained by gas chromatography-mass spectrometry (GC-MS) for treatment monitoring of children with CAH.<p class="abstex...

hrp0089rfc1.5 | Adrenals &amp; HPA Axis | ESPE2018

Quantitative Urinary GC–MS Based Steroid Analysis for Treatment Monitoring of Adolescents and Young Adults with Autoimmune Primary Adrenal Insufficiency

Kamrath Clemens , Hartmann Michaela F , Wudy Stefan A

Background: Autoimmune primary adrenal insufficiency (PAI) is a rare and life-threatening disease. Standard replacement therapy consists of multiple daily doses of hydrocortisone combined with fludrocortisone. A recent Endocrine Society guideline argued against hormonal monitoring of glucocorticoid replacement. However, about 50% of adolescents and young adults (AYAs) with chronic diseases are non-adherent to their prescribed treatment regimens. Pervasive nonadherence places p...

hrp0086s2.2 | Genetics and epigenetics of thyroid dysgenesis | ESPE2016

Genetics of Thyroid Dysgenesis and Associated Malformations

Polak Michel

Thyroid dysgenesis (TD) is the most common cause of congenital hypothyroidism in iodine sufficient regions. TD includes a broad spectrum of developmental anomalies varying from absence of thyroid (athyreosis) to an abnormally located thyroid (ectopy), small (hypoplasia) or asymmetric thyroid. Thyroid dysgenesis is usually sporadic, but up to 2% of cases is familial. Genetics of TD is complex and advances in developmental biology over the past two decades revealed monogenetic f...

hrp0084wg2.2 | Diabetes Technology and Therapeutics Thursday, 1 October | ESPE2015

The Pros and Cons of Using Sulfonylurea before Genetic Testing in Neonatal Diabetes Mellitus

Polak Michel

Background: Very early onset diabetes mellitus (neonatal diabetes mellitus (NDM)) seems to be unrelated to autoimmunity in most instances. A number of conditions are associated with NDM, some of which have been elucidated at the molecular level. Among these, the recently elucidated mutations in the KCNJ11 and ABCC8 genes, encoding the Kir6.2 and SUR1 subunit of the pancreatic KATP channel involved in regulation of insulin secretion, account for one...