hrp0095p1-129 | Growth and Syndromes | ESPE2022

Variegated Mosaic Aneuploidy Syndrome In Two Severely Undersized Siblings

Valls Aina , Ros Andrea , Murillo Marta , Garcia Belen , Martinez Daniel , Maqueda Elena , Berrocal Elena

Introduction: Variegated mosaic aneuploidy syndrome (MVA) is a rare autosomal recessive disease characterized by a variable percentage of chromosomal gains and losses, resulting in multiple mosaic aneuploidies, which explains a great phenotypic variety and may predispose to the development of cancer. Bi-allelic mutations in CEP57 are the cause of MVA2. CEP57 encodes a centrosome protein involved in microtubule stabilization and is crucial for maintaining prope...

hrp0089rfc4.3 | GH & IGFs | ESPE2018

A Deletion Encompassing Exon 2 of the ALS Gene: Analysis of a Patient with ALS Deficiency and His Family

Poggi Helena , Arancibia Monica , Benavides Felipe , Lagos Carlos , Vecchiola Andrea , Dominguez-Menendez Gonzalo , Martinez-Aguayo Alejandro

The main role of the acid-labile subunit (ALS) is to stabilize the IGFBP3/IGF complexes. Pathogenic variants in the gene coding for ALS (IGFALS) results in IGF1 and IGFBP3 deficiency, short stature, delay puberty and insulin resistance. The aim of these study was to identify the genetic cause in a patient with suspected ALS deficiency. The proband is the third son of non-consanguineous parents, evaluated for the first time at 17.3 years due to short stature (−2....

hrp0089p1-p117 | Fat, Metabolism and Obesity P1 | ESPE2018

The More Obese – The Less Pubertal Height Gain

Holmgren Anton , Niklasson Aimon , Martinez-Villanueva Julian , Martos-Moreno Gabriel A , Argente Jesus , Albertsson-Wikland Kerstin

Background: In a population of a community-based setting (BMISDS range −3.5 to +4.1), there is a negative linear correlation between childhood BMISDS and pubertal height gain, together with earlier onset of pubertal growth with higher BMISDS for both sexes (1).Objective: To investigate the impact of BMI in childhood on the pubertal pattern of growth for obese children in a clinical setting.Met...

hrp0089p3-p338 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P3 | ESPE2018

Ovarian Leydig Cell Tumor in an 8 Years Old Girl Misdiagnosed as Congenital Adrenal Hyperplasia Due to Elevated 17-Hydroxi-Progesterone

Arancibia Monica , Garcia-Fernandez Hernan , Martinez-Aguayo Alejandro , Baquedano Paulina , Poggi Helena , Garcia Hernan

Introduction: Non-classical congenital adrenal hyperplasia is the most common pathological cause of early pubarche in prepubertal patients. However, this may also be the first manifestation of central precocious puberty or an androgen producing suprarrenal or ovarian tumor.Objective: To present a clinical case initially misdiagnosed as Congenital Adrenal Hyperplasia that turned out to be an Ovarian Tumor of Leydig Cells.Clinical ca...

hrp0086p1-p738 | Pituitary and Neuroendocrinology P1 | ESPE2016

Oxytocin Deficiency is Associated with Hyperphagia and Weight Gain in Hypothalamic and Common Obesity: A First-in-Humans Proof-of-Concept Study

Gan Hoong-Wei , Leeson Clare , Aitkenhead Helen , Spoudeas Helen , Martinez-Barbera Juan Pedro , Dattani Mehul

Background: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with congenital or acquired hypothalamic damage. Its pathophysiology has been attributed to hyperphagia and hyperinsulinaemia. The wider roles of oxytocin (OXT) in regulating appetite and weight have recently emerged in animal and human studies, but there is no human evidence that hypo-oxytocinaemia contributes to weight gain.Hypothesis: Hypo-oxytocina...

hrp0082fclb2 | Late Breaking Abstracts | ESPE2014

Sonic Hedgehog is Required for Cell Specification of Rathke’s Pouch Progenitors During Normal Development and is Over-Expressed in Adamantinomatous Craniopharyngioma

Carreno Gabriela , Andoniadou Cynthia , Heywood Wendy , Mills Kevin , Dattani Mehul , Martinez-Barbera Juan Pedro

Background: Mouse studies have demonstrated the necessity of Sonic Hedgehog (SHH) for normal proliferation of Rathke’s pouch (RP) precursors. However, the possible function of SHH in pituitary cell specification remains to be assessed. Additionally, evidence suggests that SHH may be relevant in human adamantinomatous craniopharyngioma (ACP), a histologically benign, but clinically aggressive childhood tumour associated with high morbidity.Objective ...

hrp0082p3-d3-801 | Gonads and Gynaecology | ESPE2014

The Usefulness of the Leuprolide Stimulation Test as a Diagnostic Method of Idiopathic CPP in Girls

Bel Joan , Murillo Marta , Carretto Federico , Martinez Maria , Granada Marisa , Salinas Isabel

Background: The central precocious puberty (CPP) diagnosis is usually based on clinical evaluation but in its soon phase this evaluation is difficult so laboratory confirmation is crucial.Objective and hypotheses: To evaluated the usefulness of the Leuprolide stimulation test as a diagnostic method of idiopathic CPP.Method: Sixty-one girls, aged 5–8 years, were evaluated retrospectivaly for premature breast development. Girls ...

hrp0084p1-2 | Adrenal | ESPE2015

Ontogeny of the Synchronisation between Adrenal Clock Genes, Adrenal Steroidogenesis-Related Genes and the Circadian Rhythm of the HPA Axis in Rats

Ruiz Silvia , Martins Clarissa , Castro Margaret , Antonini Sonir , Martinez Edson , Moreira Ayrton

Introduction: The circadian rhythmicity of the hypothalamic–pituitary–adrenal (HPA) axis depends on the synchronization of the clock molecular systems in the suprachiasmatic nucleus and in the adrenals. When and how this process occurs in the adrenal is unknown.Objective: To assess the ontogeny of daily variation of the expression of the adrenal clock genes (Clock, Arntl, Per1, Per2, Per3, Cry1, Cry2, Rora, and Nr1d1), steroid...

hrp0084p2-269 | Diabetes | ESPE2015

Clinical and Hormonal Profile in Mini-Puberty of Daughters Born after Pregnancies with Diabetes: Preliminary Report

Riquelme Joel , Martinez Daniela , Sir-Petermann Teresa , Villarroel Claudio , Codner Ethel

Background: Maternal diabetes is a pathologic state that increases the incidence of complications in both the mother and the foetus. Patients with diabetes mellitus (DM) may exhibit reproductive abnormalities, including PCOS and hypogonadotropic hypogonadism. Diabetes during pregnancy is an endocrine disruptor and studies performed in animal models have shown abnormalities in gonadal function in the offspring, but it is unknown whether pre-gestational (PGDM) and gestational di...

hrp0084p3-927 | GH & IGF | ESPE2015

Comparison of Two IGF1 Assays in Patients Treated with GH

Martinez Maria , Murillo Marta , Granada M Luisa , Aldea Marta , Guerrini Estefania , Bel Joan

Background: IGF1 measurements are used to diagnose and monitoring GH related disorders. GH dose is titrated against IGF1 concentrations which should be kept within the age-and sex-related normal range. However, IGF1 results vary widely depending on the immunoassay used. International guidelines advise to report IGF1 results as S.D. scores from an assay-specific age-related reference population.Objective and hypotheses: Our objective was to...