hrp0094p2-398 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Evaluation of genomic copy number variations in the etiology of syndromic patients with diferences of sex development (DSD)

Antonio Diniz Faria Junior Jose , R. Moraes Daniela , L. Batista Rafael , Gomes Lisboa Natalia , D. Kulikowski Leslie , Y Nishi Miriam , B Mendonca Berenice , Domenice Sorahia ,

Differences of sex development (DSD) occurs when the development of chromosomal sex, gonadal or internal/external genitalia is atypical. It has an incidence of 1: 1000-4500 live born children. New chromosomal array technologies (SNP-array) can analyze the genome of the individual providing information of copy number variation (CNV) of specific chromosomal regions helping to identified pathogenic variants that could explain the etiology of the DSD. This study aims to analyze th...

hrp0094p2-420 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

Gonadal tumor risk, bone mineral density, and genetics, clinical, hormonal, and psychosexual aspects of a large androgen insensitivity syndrome cohort

Batista Rafael Loch , Ramos Raquel Martinez , Nishi Miriam , Dallago Renata , Elias Felipe , Rodrigues Andresa di Santi , Domenice Sorahia , Mendonca Berenice B

Introduction: Androgen Insensitivity Syndrome (AIS) is the most common cause of Differences of Sexual Development (DSD) in 46, XY individuals. It is an X-linked genetic disease caused by allelic variants in the Androgen Receptor Gene (Xq11-12). Methods: Patients with clinical suspicion of AIS performed hormonal serum measurements (LH, FSH, estradiol, testosterone) and molecular sequencing of the AR gene, including exons and the 5’UTR region. Psychosexual variab...

hrp0094p2-386 | Pituitary, neuroendocrinology and puberty | ESPE2021

Blood Pressure in Girls with Central Precocious Puberty and GnRH Analog Therapy

Fisch Shvalb Naama , Harani Hadas Alfandary , Davidovits Miriam , Shvalb Nir , Demol Eliaz Sharon , Yackobovitch Gavan Michal , Phillip Moshe , de Vries Liat ,

Objectives: Several case reports describe hypertension (HTN) in children treated with GnRH analogs for central precocious puberty (CPP). However, relevant data on blood pressure (BP) under GnRH analog treatment are scarce. We evaluated BP among girls with idiopathic CPP and early puberty (EP) before, during and after GnRH analog therapy, and examined associations of BP with clinical parameters.Design: A retrospective longitudinal cohort ...

hrp0098p1-126 | Diabetes and Insulin 3 | ESPE2024

Non-invasive techniques to detect early signs and determinants of diabetic peripheral neuropathy in children with type 1 diabetes.

Eilers Miriam , Fellmann Metsnanat , Wurster Janina , Meier Sandro , Lütschg Jürg , Oberhauser Sarah , Heldt Katrin , Philip Broser , l'Allemand Dagmar

Background: There is an urgent need for better detection of early subclinical manifestations of microvascular complications of diabetes such as peripheral neuropathy (DPN), which already occur in children. The gold standard for the diagnosis of DPN is the measurement of nerve conduction velocity (NCV), which, however, can only detect changes in the large myelinated fibres. At the initial stage of DPN, small, unmyelinated nerve fibres are damaged. High-resoluti...

hrp0082p3-d2-995 | Thyroid (1) | ESPE2014

Optimizing Treatment in Congenital Hypothyroidism

Serra-Caetano Joana , Migueis Joana , Cardoso Rita , Dinis Isabel , Mirante Alice

Background: Congenital hypothyroidism (CH) is an important and preventable cause of growth retardation and neurological deficit. Early treatment is crucial to minimize long term effects and today regimens tend to be more aggressive targeting hormonal control.Objective: To correlate CH severity at diagnosis with levothyroxine (LT) dosage and time needed to control TSH levels.Methods: Retrospective study including children with CH at...

hrp0089p1-p036 | Bone, Growth Plate & Mineral Metabolism P1 | ESPE2018

Novel LRP5 Loss-of-function Mutation Causes Osteoporosis-pseudoglioma Syndrome

Braslavsky Debora , Scaglia Paula , Sanguineti Nora , Cassinelli Hamilton , Ruiz Schenstrom Olivia , Armando Romina , Arberas Claudia , Aza-Carmona Miriam , Nevado-Blanco Julian , Daniel Lapunzina-Badia Pablo , Heath Karen E , Rey Rodolfo , Bergada Ignacio

Background: Osteoporosis is a complex disorder, influenced by both environmental and genetic factors. Primary osteoporosis is a rare early onset disorder with high morbidity and mortality. Wnt signaling pathway has been shown to be involved in the regulation of bone remodeling.Case: Native Argentinean boy born from a consanguineous family with history of retinal detachment in the maternal line. Delivered at term, birth weight 2900 g (−0.95 SDS), bi...

hrp0098p1-304 | Late Breaking 2 | ESPE2024

ER stress relief drives ß-cell proliferation

Bourgeois Stephanie , Staels Willem , Van Mulders Annelore , Willems Lien , Coenen Sophie , Degroote Laure , Pierreux Julie , Leuckx Gunter , Heremans Yves , De Leu Nico , Heimberg Harry , Cnop Miriam , Yi Xiaoyan , Movahedi Kiavash , Kancheva Daliya , Scheyltjens Isabelle , de Koning Eelco , Carlotti Françoise

Introduction: Regenerating endogenous pancreatic β-cells is a potentially curative yet currently elusive strategy for diabetes therapy. Mimicking the microenvironment of the developing pancreas and leveraging vascular signals, critical to pancreatic endocrinogenesis, may promote β-cell regeneration. We aimed to investigate whether recovery from experimental hypovascularization of the endocrine pancreas could trigger mouse ß-cell proliferation.<...

hrp0098p2-316 | Late Breaking | ESPE2024

A critical role for iron import through the transferrin receptor in developing ß-cells.

Van Mulders Annelore , Staels Willem , Lien Willems , Coenen Sophie , Bourgeois Stephanie , Xiaoyan Yi , Yue Tong , Leuckx Gunter , Heremans Yves , De Koning Eelco , Carlotti Francoise , Scharfmann Raphael , Cnop Miriam , De Leu Nico

Introduction: The transferrin receptor (TFRC) is abundant on the surface of ß-cells compared to neighboring α- and ∂-cells, suggesting an important role of iron in ß-cell biology. The precise impact of iron on ß-cell development, function, and survival remains elusive. Here, we investigated the role of iron metabolism in mouse and human ß-cells through chemical and genetic modulation of iron supply.<str...

hrp0095p1-335 | Multisystem Endocrine Disorders | ESPE2022

Early endocrinological deficiencies can anticipate the diagnosis of mitochondrial diseases: phenotype evolution of a rare MT-TG gene variant

Mozzato Chiara , Carecchio Miryam , Salviati Leonardo , Zeviani Massimo , Guazzarotti Laura

Mitochondrial diseases are multisystemic disorders which often involve endocrine system, as defective oxidative phosphorylation can lead to decreased hormones production or secretion and all steroid hormones are synthesized in the mitochondria. Endocrine dysfunctions can therefore represent the initial symptoms of these pathologies and the incidence of various endocrinopathies varies between different mitochondrial disease. Diabetes mellitus is the most frequently described en...

hrp0094p1-92 | Thyroid A | ESPE2021

Emotional Intelligence scores in children and adolescents with subclinical hypothyroidism - correlation with serum serotonin and thyroid stimulating hormone (TSH) concentrations.

Kostopoulou Eirini , Arianas George , Ioannidis Anastasios , Dimopoulos Ioannis , Chiotis Christos , Prezerakos Panagiotis , Spiliotis Bessie , Rojas Gil Andrea Paola ,

Introduction: Thyroxine is important for nervous system development. Subclinical hypothyroidism (SCH), a mild thyroid dysfunction, is associated with impaired cognitive function in children and mood disorders in adults. Serotonin is also involved in brain development, mood and behavior modulation. The possible interaction between thyroid function tests, serum serotonin concentrations and emotional intelligence, was studied.Method...