hrp0094p1-144 | Sex Endocrinology and Gonads B | ESPE2021

Ovarian AMH production is transiently affected in pubertal and prepubertal girls with acute lymphoblastic leukaemia and non-Hodgkin lymphoma receiving chemotherapy: a prospective, longitudinal study.

Lopez Dacal Jimena C. , Prada Silvina , Gutierrez Marcela E. , Bedecarras Patricia , Ropelato M. Gabriela , Arcari Andrea , Ballerini M. Gabriela , Gryngarten Mirta , Soria Marcela , Moran Lorena , Ferraro Cristina , Freire Analia , Bergada Ignacio , Drelichman Guillermo , Aversa Luis , Rey Rodolfo A. , Grinspon Romina P. ,

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

hrp0097fc13.6 | Pituitary, neuroendocrinology and puberty 2 | ESPE2023

Effects of Blue Light Exposure and Exposure Duration on Male Rats Puberty Process

KilinÇ Uğurlu Aylin , B&idot;dec&idot; Aysun , Mürşide DEMİREL Ayşe , Take kaplanoğlu Gülnur , dayanir Duygu , Gülbahar Özlem , Saadet Devec&idot; Bulut Tuba , DÖĞer Esra , ÇAmurdan M. Orhun

Purpose: Our study aimed to examine the effects of blue light exposure on prepubertal male rats’ puberty and testis tissue.Methods: Eighteen 21-day-old male Sprague Dawley rats were divided into three groups consisting of six rats in each group: Control Group (CG), Blue Light-6 hours (BL-6), and Blue Light-12 hours (BL-12). CG rats were maintained with 12/12-hour light-dark cycles. The rats of BL-6 and BL-12 were e...

hrp0097rfc3.4 | Fat, metabolism and obesity 1 | ESPE2023

Effect of maternal diet and breastfeeding on growth and distribution of adiposity from birth up to 12 months: data from the European LIFE-MILCH project

Righi Beatrice , Alberghi Francesca , Fontana Marta , Pelosi Annalisa , Davolio Emanuela , Rotteglia Cecilia , Catellani Cecilia , Sartori Chiara , Shulhai Anna-Mariia , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E Street Maria

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

hrp0097rfc14.5 | Late Breaking | ESPE2023

Functional demonstration that variants in the C-terminal of IHH cause short stature and/brachdactyly

Diaz-González Francisca , Modamio-Høybjør Silvia , Lucas-Castro Elsa , Coral Barreda-Bonis Ana , Campos-Barros Angel , González-Casado Isabel , Sentchordi-Montané Lucia , E. Heath Karen

Introduction: Variants in the N-terminal of the Indian-hedgehog gene (IHH) have been associated with Brachydactyly type-A1 (AD) and Acrocapitofemoral dysplasia (AR), only three of which have been functionally studied. However, heterozygous IHH variants, majority classified as variants of unknown significance (VUS) are being increasingly identified, not only in the N-terminal but also in the uncharacterized C-terminal, by NGS, in individuals with short...

hrp0097p1-400 | Adrenals and HPA Axis | ESPE2023

11-oxygenated androgens as biomarkers in congenital adrenal hyperplasia: reference intervals for children

P.H. Adriaansen Bas , oude-Alink Sandra , W. Swinkels Dorine , A.M. Schröder Mariska , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen - van der Grinten Hedi , E. van Herwaarden Antonius

Background: Patients with congenital adrenal hyperplasia (CAH) might suffer from hyperandrogenism. For diagnosing and treatment monitoring, usually levels of androstenedione (A4) and testosterone (T) are measured in blood. More recently, adrenal-specific 11-oxygenated androgens such as 11- hydroxyandrostenedione (11OHA4), 11-ketoandrostenedione (11KA4), 11-hydroxytestosterone (11OHT), and 11-ketotestosterone (11KT) were introduced as promising biomarkers, but ...

hrp0097p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Effect of maternal diet on pubertal stages and ano-genital distance from birth up to 12 months: data from the European LIFE-MILCH project

Alberghi Francesca , Fontana Marta , Righi Beatrice , Shulhai Anna-Mariia , Davolio Emanuela , Rotteglia Cecilia , Pelosi Annalisa , Catellani Cecilia , Sartori Chiara , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E. Street Maria

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

hrp0098fc3.1 | Pituitary, Neuroendocrinology and Puberty 1 | ESPE2024

The Effects of Blue Light Exposure on the Epiphyseal Plate and IGF1 - IGFBP3 Expression in Rats

Kılınç Uğurlu Aylin , Dayanır Duygu , Take Kaplanoğlu Gülnur , Mürşide Demirel Ayşe , Gülbahar Özlem , Saadet Deveci Bulut Tuba , Döğer Esra , Çamurdan M.Orhun , Bideci Aysun

Introduction: The impact of increased exposure to blue light (BL) from infancy over the past decade on growth and epiphyseal plate maturation is not well understood. This study aims to experimentally investigate the effects of BL exposure and duration during the prepubertal period on the epiphyseal plate.Materials and Methods: Eighteen female and eighteen male Sprague Dawley rats, aged 21-days postnatal, were divided int...

hrp0098fc8.3 | Adrenals and HPA Axis 2 | ESPE2024

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Brachet Cecile , Laemmle Alexander , Cools Martine , Sauter Kay-Sara , De Baere Elfride , Vanlander Arnaud , V. Pandey Amit , du Toit Therina , D. Voegel Clarissa , Heinrichs Claudine , Verdin Hannah , E. Flück Christa

Objective: Adrenal cortisol production occurs through a biosynthetic pathway which depends on NADH and NADPH for energy supply. The mitochondrial respiratory chain and the reactive oxygen species (ROS) detoxification system are therefore important for steroidogenesis. Mitochondrial dysfunction leading to oxidative stress has been implicated in the pathogenesis of several adrenal conditions. Nonetheless, only very few patients with variants in one gene of the R...

hrp0098fc8.5 | Adrenals and HPA Axis 2 | ESPE2024

Free cortisol and free 21-deoxycortisol in the clinical evaluation of adrenal insufficiency in congenital adrenal hyperplasia

P.H. Adriaansen Bas , Utari Agustini , J. Olthaar Andre , C.B.M. van der Steen Rob , J. Pijnenburg-Kleizen Karijn , Berkenbosch Lizanne , N. Span Paul , C.G.J. Sweep Fred , L. Claahsen-van der Grinten Hedi , E. van Herwaarden Antonius

Background: Some patients with classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) survive without glucocorticoid treatment, despite low total cortisol levels. This may be caused by accumulating precursor steroids such as 21-deoxycortisol (21DF), which could contribute to the glucocorticoid activity. In addition, these precursor steroids may decrease the cortisol-protein binding, thereby increasing the free (biologically activ...

hrp0098fc8.6 | Adrenals and HPA Axis 2 | ESPE2024

Plasma concentrations of renin and ACTH in children and adolescents from the general population: new reference intervals according to sex, age, and pubertal stage

Edström ernille , A. Holmboe Stine , Vilmann Lea , R. Grøndahl Veronica , E. Thomsen Charlotte , Ø. Fritzbøger Andrés , Aksglaede Lise , P. Hagen Casper , H. Petersen Jørgen , R. Jørgensen Niklas , Juul Anders , Holm Johannsen Trine

Introduction: Management of children with adrenal disorders such as congenital adrenal hyperplasia involves thorough clinical monitoring, including measurements of plasma renin concentrations (PRC) and ACTH. However, sex- and age-related reference intervals (RIs) for PRC and ACTH using novel immunoassays are needed.Aim: To evaluate circulating concentrations of renin and ACTH in children and adolescents from the general ...