hrp0089p1-p024 | Adrenals and HPA Axis P1 | ESPE2018

Gonadotropin-Dependent Pubertal Disorders are Common in Patients with Virilizing Adrenocortical Tumors in Childhood

Stecchini Monica F , Braid Zilda , More Candy B , Aragon Davi C , Castro Margaret , Moreira Ayrton C , Antonini Sonir R

Background: In pediatric patients with adrenocortical tumors (ACT), morbidity and mortality rates have been extensively evaluated. However, there are almost no data on the late consequences of early exposure to high androgen levels on pubertal development and on final height (FH) in these patients.Objective: To investigate the impact of early exposure to androgen excess on gonadotropin-dependent pubertal development and on final height (...

hrp0089p3-p141 | Fat, Metabolism and Obesity P3 | ESPE2018

Serum Hepcidin and Ferritin in Prepubertal Obese Children

Gajewska Joanna , Klemarczyk Witold , Ambroszkiewicz Jadwiga , Gła¸b-Jabłońska Ewa , Chełchowska Magdalena

Introduction: Obesity is the direct cause of a number of immediate problems during childhood. Recently, fat mass was described as a significant negative predictor of serum iron. Hepcidin is a hormone stimulated by an increase in plasma iron levels and iron deposits in tissues, and decreases iron release from macrophages and duodenal enterocytes into the plasma. This protein prevents excessive iron absorption and iron accumulation in tissues. Ferritin is the most commonly deplo...

hrp0089p2-p304 | Pituitary, Neuroendocrinology and Puberty P2 | ESPE2018

Ultrasound-Based Measurements of Testicular Volume in 6–16 Year Old Boys: Intra- and Inter-Observer Agreement and Comparison with Prader Orchidometry

Oehme Ninnie , Roelants Mathieu , Bruserud Ingvild Saervold , Egil Eide Geir , Bjerknes Robert , Rosendahl Karen , Juliusson Petur B

Background: Prader orchidometry has been the standard method for evaluating testicular size. As this technique is subjective and tends to overestimate the testicular volume, ultrasound has been proposed as a more reliable method.Objective: To evaluate the intra- and inter-observer agreement of ultrasound measurements of testicular volume and comparison with Prader orchidometry.Materials and methods: Length, width and depth of the r...

hrp0086fc1.3 | Adrenals | ESPE2016

Steroidogenesis in the Human Fetal Adrenals at the End of the First Trimester

Savchuk Iuliia , Morvan M.L. , Soeborg T. , Antignac J.P. , Danielsson K. Gemzell , Bizec B. Le , Soder O. , Svechnikov K.

Background: Steroid hormones produced by the human fetal adrenals (HFA) are suggested to regulate intrauterine homeostasis and the maturation of certain fetal organs necessary for extrauterine life. Appropriate development and hormonal function of the HFA therefore are critical for normal fetal maturation and survival. Little is known about the possible relationship between the expression of steroidogenic enzymes and corresponding transcription factors in the HFA in vivo</...

hrp0084p1-63 | DSD | ESPE2015

Gender Identity Prediction in Adulthood by HTP Test (House-Tree-Family) in 46, XY DSD Patients

Batista Rafael Loch , Inacio Marlene , Oliveira Jr Ari , Brito Vinicius N , Costa Elaine M F , Domenice Sorahia , Mendonca Berenice B

Background: Patients with 46, XY DSD present conflicts and issues related to gender identity (GI) and change to male social sex in patients registered in the female social sex is not rare. The HTP test is a projective psychological test, which assesses aspects related to sexual identification. GI in this test is defined as female (F), male (M) or ambiguous.Objective and hypotheses: To evaluate GI in patients with 46, XY DSD by the HTP test and compare th...

hrp0084lbp-1265 | Late Breaking Posters | ESPE2015

Profiling of a Novel NSIAD-Causing Mutation of Vasopressin Receptor 2 and its Differential Effect on Receptor Trafficking Compared to Previously Identified Mutations

Tiulpakov Anatoly , White Carl W , Abhayawardana Rekhati , Zubkova Natalia , Seeber Ruth M , See Heng B , Pfleger Kevin D G

Background: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) results from gain-of-function mutations in the AVPR2 gene coding for vasopressin receptor 2 (V2R). In contrast, nephrogenic diabetes insipidus (NDI) is caused by loss-of-function mutations in AVPR2. Here we describe and functionally characterize a novel mutation located in the seventh transmembrane domain of V2R. This mutation was identified in a boy suffering from water-induced hyponatrem...

hrp0094p2-184 | Fat, metabolism and obesity | ESPE2021

Assessment of DRD2 dopamine receptor gene rs6277 in pediatric obesity: a case-control study

Machado Pinto Renata , Alves Nygell S , Fortes Jakeline S , Monteiro Rubia V , Minasi Lysa B , da Cruz Aparecido Divino ,

Introduction: Obesity is a multifactorial disease resulting from an interplay between genetics and the environment. Metabolic, nutritional, psychosocial, and lifestyle factors participate, promoting various degrees of overweight or obesity. Pediatric obesity increases after infancy and is higher in early adulthood, showing a heritability of up to 85%. Genetic variants associated with BMI in children can exert their effects by affecting eating behavior, as is t...

hrp0097fc7.1 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Polygenic scores for testosterone and SHBG are associated with hormone levels in male infants

Siegfried Busch Alexander , Lindhardt Ljubicic Marie , N. Upners Emmie , B. Fischer Margit , P Hagen Casper , Juul Anders

Background: The male Hypothalamic-Pituitary-Gonadal (HPG) axis undergoes a transient activity phase during the first months of life with surging serum concentrations of reproductive hormones. Theoretically, the hormonal surge could represent a passive postnatal feedback to the withdrawal from the high sex steroid levels in pregnancy. However, we believe that minipuberty rather represents an active, tightly genetically-regulated biological process. We therefore...

hrp0097rfc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Siegfried Busch Alexander , Lindhardt Ljubicic Mariee , N. Upners Emmie , B. Fischer Margit , P. Hagen Casper , Frederiksen Hanne , Juul Anders

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...

hrp0097p1-270 | Fat, Metabolism and Obesity | ESPE2023

MC4R deficiency in a portuguese pediatric cohort study

C Mendes Ariana , Pereira Janet , Mirante Alice , M Saraiva Jorge , R. Soares Ana , B. Sousa Sérgio , Rosmaninho-Salgado Joana

Background: Melanocortin 4 receptor (MC4R) deficiency is the commonest monogenic form of non-syndromic obesity. MC4R is a seven transmembrane G-protein coupled receptor implicated in central regulation of body weight. The loss-of-function mutations in MC4R gene will contribute to early-onset obesity associated with hyperinsulinemia, hyperphagia and “binge eating”. We aim to determine the prevalence of MC4R variants in a Pediatrics...