hrp0098p2-173 | Growth and Syndromes | ESPE2024

Prevalence and changes in genetic and clinical abnormalities in growth hormone-treated girls with Turner syndrome: a study from the Belgian-Luxembourgish growth hormone registry (BELGROW)

Boutsen Laure , Thomas Muriel , De Schepper Jean , Verlinde Fransiska , Beckers Dominique , Heinrichs Claudine , Casteels Kristina , Cools Martine , Dotremont Hilde , Brachet Cécile , Parent Anne-Simone , Lambert Sophie , Massa Guy , Klink Daniel , Logghe Karl , Depoorter Sylvia , Fudvoye Julie , Reynaert Nele , Becker Marianne , Lysy Philippe

Background: Since the initial clinical description of Turner Syndrome (TS), there have been notable changes in the genotypic and phenotypic presentation of the disease. Our aimis to provide an overview of the current genetic and clinical characteristics of a large Belgian cohort of girls with TS, and the evolution over the last 3 decades.Methods: We therefore analyzed the genetic and clinical data of growth hormone(GH)-t...

hrp0097rfc7.6 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Prenatal AnoGenital Distance (AGD) by ultrasonography in 571 fetuses and correlation to postnatal AGD: A longitudinal cohort study of healthy males and females

Bistrup Fischer Margit , Mola Gylli , Scheel Lone , Kristine Hegaard Hanne , Sundberg Karin , Juul Anders , P Hagen Casper

Background: The anogenital distance (AGD) is a well-known measure in rodents used to distinguish male and female pubs. Likewise, AGD display sex-specific differences in humans. It is considered a postnatal readout of early androgen exposure in fetal life. Thus, in postnatal life AGD is longer in boys than in girls, reduced in infants born with cryptorchidism and hypospadias as well as in boys exposed to anti-androgenic agents in fetal life. However, little is ...

hrp0098fc9.4 | Sex Endocrinology and Gonads | ESPE2024

Prenatal exposure to paracetamol is associated with smaller testis volume and decreased levels of steroid metabolites during infancy in healthy males: A COPANA cohort study of 287 boys

Mola Gylli , Bistrup Fischer Margit , Frederiksen Hanne , Scheel Lone , Bak Wraae Katrine , Lilleøre Rom Ane , Kristine Hegaard Hanne , Møbjerg Kristensen David , Juul Anders , Hagen Casper

Background: Paracetamol is bought over the counter and frequently used by pregnant women. Studies suggest that paracetamol is endocrine-disruptive, affecting for example germ cell proliferation. Fetal male masculinization is initiated in early gestation (GW 8-14).Primary aim: To assess if prenatal exposure to paracetamol was associated with testicular function.Design: Prospective, ...

hrp0098t19 | Top 20 Posters | ESPE2024

Ultrasonographic Evaluation of Ovarian and Uterine Morphology in Minipuberty and Associations with Reproductive Hormones: A COPANA Cohort Study of 302 infant girls.

Bistrup Fischer Margit , Mola Gylli , Scheel Lone , Bak Wraae Katrine , Lilleøre Rom Ane , Frederiksen Hanne , Sundberg Karin , Kristine Hegaard Hanne , Juul Anders , P Hagen Casper

Background: Minipuberty is considered an essential period for early diagnosis of endocrine disorders and reproductive organ maturation. While the complex dynamics of female reproductive hormones during minipuberty was recently described, detailed evaluation of ovarian and uterine morphology in relation to circulating levels of reproductive hormones remains to be elucidated.Aim: Report normative values of ovarian and uter...

hrp0098p3-78 | Diabetes and Insulin | ESPE2024

Severe case of Obesity and Type 2 Diabetes – where to go when nothing seems to help?

Crawley Eleanor , Matei Cristina

Background: There has been in recent years a significant increase of incidence of obesity and Type 2 diabetes (T2D) in children and young people (CYP). Most therapeutics research for T2D has been done in adults. There is increasing concern of high risk patients that are very slow to respond to our standard approach, especially as youth with T2D have greater degree of insulin resistance, more rapid beta cell failure and prevalence of complications compared with...

hrp0082p2-d2-281 | Adrenals & HP Axis (1) | ESPE2014

Nonclassic CYP21A2 Deficiency: Diagnosis and Clinical Evolution

Luzuriaga Cristina , Bertholt Maria Laura , Naranjo Cristina , Ezquieta Begona

Background: The nonclassic congenital adrenal hyperplasia (CAH) is often presented as isolated premature pubarche in childhood. Definitive diagnosis is genetic.Objective and hypotheses: To describe patients diagnosed in our hospital, clinical signs and laboratory results that lead to genetic study. To analyze adult height.Method: Descriptive retrospective study of our population with genetic confirmation.Resu...

hrp0098fc9.3 | Sex Endocrinology and Gonads | ESPE2024

Prenatal exposure to paracetamol is associated with reduced uterine volume at infancy - A COPANA Cohort study of 302 healthy girls

Bistrup Fischer Margit , Mola Gylli , Scheel Lone , Bak Wraae Katrine , Lilleøre Rom Ane , Frederiksen Hanne , A Anderson Richard , Møbjerg Kristensen David , Andersson Anna-Maria , Kristine Hegaard Hanne , Juul Anders , P Hagen Casper

Background: Paracetamol is the preferred analgesic and antipyretic during pregnancy. Experimental studies suggest that in-utero exposure to paracetamol disrupts ovarian follicle formation and future ovarian function. This may secondarily affect uterine growth. Female minipuberty is characterized by HPG activity and follicle maturation, however individual levels of reproductive hormones fluctuate considerably.Primary Aim:...

hrp0092p3-114 | Fat, Metabolism and Obesity | ESPE2019

Rare Case of Acquired Generalized Lipodystrophy in A 14-Year Old Patient

Cristina Patricia Dumitrescu , Monica Mailat

Background: Lipodystrophies are a group of rare disorders characterized by varying degrees of body fat loss. The metabolic abnormalities associated with lipodystrophy include insulin resistance, often leading to diabetes mellitus, hypertriglyceridemia that may be severe enough to cause acute pancreatitis and hepatic steatosis that may lead to cirrhosis.They can be either genetic or acquired, generalized or partial. Acquired generalized l...

hrp0097p1-512 | Growth and Syndromes | ESPE2023

Growth and final height of adolescents with systemic juvenile idiopathic arthritis in the transitional age: a monocentric case series

Cristina Maggio Maria , Corsello Giovanni

Introduction: Systemic Juvenile Idiopathic Arthritis (sJIA) is an autoinflammatory disease, characterized by the association of arthritis with fever, often accompanied by rash, generalized lymphadenopathy, hepatosplenomegaly, and serositis. The diagnosis requires adequate exclusion of infectious, autoimmune, autoinflammatory, and oncologic diseases. These patients need to be treated with glucocorticoids plus biologic drugs, anti-IL-1 or anti-IL-6 monoclonal an...

hrp0089p3-p126 | Fat, Metabolism and Obesity P3 | ESPE2018

Tracing the Effect of the Melanocortin-4 Receptor Pathway in Obesity: Study Design and Methodology of the TEMPO Registry

Eneli Ihuoma , Xu Jinyu , Fiedorek Fred , Webster Matthew , McCagg Amy , Ayers Kristin , Ploeg Lex Van Der , Garfield Alastair , Estrada Elizabeth

Introduction: The hypothalamic melanocortin-4 receptor (MC4R) pathway plays a vital role in energy balance. Genetic defects in the MC4R pathway may result in severe early onset obesity.Objective: The TEMPO registry (NCT03479437) aims to identify and enroll approximately 1000 participants with rare genetic forms of obesity that are potentially related to key genes, upstream or downstream, of the MC4R. In addition, the TEMPO registry will evaluate the burd...