hrp0082p2-d3-615 | Turner Syndrome | ESPE2014

Aortic Dimensions and Cardiac Anomalies in a Cohort of Children with Turner Syndrome

Ginige Nimasari , de Silva Shamya , Perera Shehan

Background: The increased risk for congenital heart malformations in Turner syndrome (TS) is well established with a prevalence ranging from 17 to 45%. The associated cardiac anomalies and normal parameters for aortic dimensions in TS have not been previously reported from Sri Lanka.Objective and hypotheses: To document parameters for aortic dimensions and describe structural and functional cardiac abnormalities in a cohort of children with TS.<p cla...

hrp0084p2-496 | Perinatal | ESPE2015

Serial 3-Dimensional Ultrasonographic Evaluation of Foetal Adrenal Volumes in the 2nd and 3rd Trimester of Pregnancy Characterises Human Adrenal Development in utero

Baftic Nerma , Katugampola Harshini , Meso Muriel , Allen Rebecca , Marleen Shemoon , Elahi Shezan , Aquilina Joe , Dunkel Leo , Storr Helen

Background: The human foetal adrenal (FA) undergoes vast physiological changes as pregnancy progresses. Original descriptions of FA development emerged following morphometric studies from spontaneous/medical terminations. These revealed the greatest increase in FA size was during the first trimester. Recently, sonographic evaluation of human FA volume and length has led to the creation of normal FA growth centiles and correlations between FA size and estimated foetal weight (E...

hrp0084p2-440 | Gonads | ESPE2015

A Novel Androgen Receptor Gene Mutation in Two Patients with a 46, XY Disorder of Sex Development

Fernandez Maria Sanz , Arnao Maria Dolores Rodriguez , Sanchez Amparo Rodriguez , de Leon Esther Gonzalez Ruiz , Cancio Monica Fernandez , Parera Laura Audi

Background: Androgen insensitivity syndrome in its complete form (CAIS) is a disorder of hormone resistance characterised by a female phenotype in an individual with an XY karyotype and testes producing age-appropriated normal concentrations of androgens. Pathogenesis is the result of mutations in the x-linked androgen receptor (AR) gene, which encodes for the ligand-activated AR. We report the clinical, biochemical and molecular features of two affected sisters in whom a nove...

hrp0084p2-183 | Adrenals | ESPE2015

24-H Urinary Free Cortisol as a Screening Test for Cushing’s Syndrome in Children

Shapiro Lucy , Elahi Shezan , Baliey Joe , Perry Les , Martin Lee , Grossman Ashley , Akker Scott , Monson John , Drake William , Savage Martin , Storr Helen

Background: CushingÂ’s syndrome (CS) in children remains a challenge to diagnose and exclude. Published diagnostic guidelines for CS are heavily based upon adult data. The use of 24-h urinary free cortisol (UFC) measurements in the diagnosis of adult CS may have limited use. There is little data on the utility of 24-h UFC in children.Objective and hypotheses: We hypothesised that 24-h UFC is a robust and reliable screening test in children. The study...

hrp0084p3-1143 | Puberty | ESPE2015

Premature Adrenarche is Associated to Precocious Thelarche but not to Precocious Gonadarche or Pubarche in Chilean Adolescents

Pereira Ana , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA) has been associated to increased metabolic risk. Areas of controversy regarding associated co-morbidities are precocious pubarche, PCOS and lower birth weight, which may depend on ethnic background.Objective and hypotheses: To describe the risk of precocious thelarche (PT, <8 years), pubarche (PP, <8 years F, <9 years M) and gonadarche (PG, <9 years) in children with premature adrenarche.<p class=...

hrp0089p1-p020 | Adrenals and HPA Axis P1 | ESPE2018

High DHEAS (HD) in Girls Determines Earlier Pubertal Maturation and Mild Hyperandrogenism throughout Pubertal Development

Pereira Ana , Merino Paulina , Iniguez German , Corvalan Camila , Mericq Veronica

Background: Premature adrenarche (PA),characterized by high concentrations of DHEAS,has been considered a benign condition until recently,where associations to increased metabolic risk and PCOS have arisen,which may depend on ethnic background and infancy weight gain.Objective and hypotheses: To determine whether PA in girls determines:i)a different timing of pubertal events, and ii)a different pattern of Ovarian morphology/hormones and adrenal hormones....

hrp0084p2-546 | Puberty | ESPE2015

Gynecomastia with Precocious Onset in Peutz-Jeghers Syndrome: Managing the Aromatase Overexpression

Simoes-Pereira Joana , Marques Ana Filipa , Limbert Catarina , Lopes Lurdes

Background: Testicular tumours are an unusual cause of prepubertal gynecomastia. However, in boys with Peutz-Jeghers Syndrome (PJS), a rare autosomal dominant disorder caused by mutation in LKB1/STK11 gene, is mandatory to exclude this etiology, given the well-known association between PJS and Large-Cell Calcyfing Sertoli-Cell Tumor (LCCSCT). This mutation promotes aromatase overexpression in neoplastic Sertoli-cells, leading to gynecomastia.Case present...

hrp0094p2-3 | Adrenals and HPA Axis | ESPE2021

Endocrine-disrupting chemicals: an often-forgotten etiology of endocrinological disturbances

Lemos Ana Pereira , Duarte Mariana , Galhardo Julia , Lopes Lurdes ,

Background: Endocrine disruptors (ED) are chemicals that can mimic hormones and interfere with their receptors, causing endocrinological abnormalities.Clinical report: We present the case of a previously healthy, melanodermic, two-year-old female, who had a three-month evolution of clitoromegaly and generalized hypertrichosis. Endocrine blood work showed suppressed serum androgens suggesting steroid exogenous contact. Karyotype, bone age...

hrp0094p2-339 | Multisystem endocrine disorders | ESPE2021

Three generations of MEN-1: the importance of family screening

Duarte Mariana , Pereira Lemos Ana , Galhardo Julia , Lopes Lurdes ,

Background: Multiple Endocrine Neoplasia type 1 (MEN-1) is a rare and underdiagnosed syndrome caused by inactivating mutations of the tumor suppressor gene MEN-1 that predisposes to multiple tumors classically situated in the anterior Pituitary, Parathyroid, and Pancreas. The mutation is transmitted in an autosomal dominant way, and for this reason, the screening of all first-degree relatives is mandatory afte...

hrp0086fc2.2 | Bone &amp; Mineral Metabolism | ESPE2016

From Pseudohypoparathyroidism to Inactivating PTH/PTHrP Signaling Disorder (iPPSD), a Novel Classification Proposed by the European EuroPHP-Network

Thiele Susanne , Mantovani Giovanna , Barlier Anne , Bordogna Paola , Elli Francesca M , Freson Kathleen , Garin Intza , Grybek Virginie , Hanna Patrick , Izzi Benedetta , Hiort Olaf , Lecumberri Beatriz , Pereda Arrate , de Sanctis Luisa , Silve Caroline , Turan Serap , Usardi Alessia , Saraff Vrinda , de Nanclares Guiomar Perez , Linglart Agnes

Background: Disorders related to an impairment in parathyroid hormone (PTH) signaling pathway are historically classified under the term pseudohypoparathyroidism (PHP), that now encompasses rare, related but highly heterogeneous diseases with demonstrated (epi)genetic causes. The actual classification is based on the presence or absence of specific clinical and biochemical signs together with an in vivo response to exogenous PTH and an in vitro assay of Gs&#9...