hrp0092p1-164 | Adrenals and HPA Axis (1) | ESPE2019

The Urinary Steroid Signature of Premature Adrenarche

Janner Marco , Sommer Grit , Groessl Michael , Flück Christa

Background: Adrenarche describes the developmental event of the human adrenal cortex when the zona reticularis increases the synthesis of C19 steroids (DHEA/-S) markedly at around 6-8 years of age. Early appearance of this event is called premature adrenarche (PA) and has been associated with adverse outcomes including polycystic ovary syndrome and metabolic syndrome. Recently novel biosynthetic pathways of androgen production have been revealed, but their rol...

hrp0082p1-d3-95 | Sex Development | ESPE2014

Ovarian Development and Hormonal Feedback Mechanism in a 46XX Patient with cyp19a1 Deficiency Under Low Dose Estrogen Replacement

Burckhardt Marie-Anne , Obmann Verena , Janner Marco , Mullis Primus E

Background: Ovarian and uterine development in relation to hormonal feedback mechanisms (E2, LH, FSH, and inhibin) has rarely been studied. Therefore, the age specific and longitudinally adequate replacement dose of estradiol to achieve normal maturation in terms of ovarian and uterine development during infancy, childhood and adolescence remains not well known. However, aromatase deficiency offers an excellent model to study the relevant estradiol dose needed to ac...

hrp0082p2-d2-384 | Fat Metabolism & Obesity (1) | ESPE2014

Ambulatory Arterial Stiffness Index in Obese Children

Saner Christoph , Mullis Primus , Simonetti Giacomo , Janner Marco

Background: Altered arterial stiffness is a recognized risk factor of poor cardiovascularhealth. Ambulatory arterial stiffness index (AASI, defined as one minus the regression slope of diastolic on systolic blood pressure values derived from a 24 h arterial blood pressure monitoring (ABPM)) is an upcoming and readily available marker of arterial stiffness. We tested the hypothesis that AASI is increased in obese children compared to healthy subjects.Meth...

hrp0084p2-343 | Fat | ESPE2015

Chronodisruption in Obese Children

Saner Christoph , Mullis Primus , Simonetti Giacomo D , Janner Marco

Background: Altered circadian and ultradian blood pressure (BP) and heart rate (HR) rhythmicity has been described in many diseases with increased cardiovascular risk.Objective and hypotheses: We tested the hypothesis that rhythmicity in obese children is changed, compared to healthy subjects.Method: Circadian and ultradian BP and HR rhythmicity was assessed with Fourier analysis from 24-h ambulatory BP measurement (ABPM) in 75 obe...

hrp0094p2-453 | Thyroid | ESPE2021

Kinetics of FT4 serum concentrations in newborns and infants with congenital hypothyroidism during follow-up differ in the three severity groups

Steffens Britta , Gächter Pascal , Koch Gilbert , l'Allemand Dagmar , Janner Marco , Konrad Daniel , Welzel Tatjana , Pfister Marc , Szinnai Gabor

Background: The goal of congenital hypothyroidism (CH) treatment is rapid normalization and maintenance of TSH and FT4 in the reference range. Recommended starting dose of levothyroxine (LT4) ranges from 10-15 mg/kg/d. Hyperthyroxinemia can be accepted in the context of normal TSH and LT4 should only be reduced in case of symptoms or repeatedly increased FT4. The aim of this study was to quantify duration and maximum peak of FT4 levels outside the reference range for each CH s...

hrp0094p1-43 | Sex Endocrinology and Gonads A | ESPE2021

Broad range of phenotypes in an international cohort of 75 DSD individuals with SF-1/NR5A1 variants

Kouri Chrysanthi , Sommer Grit , Ahmed Faisal , Balsamo Antonio , Baronio Federico , Bryce Jillian , Camats Nuria , Cetinkaya Semra , van der Grinten Hedi L Claahsen , Cools Martine , Darendeliler Fatma Feyza , Davies Justin H , Fabbri-Scallet Helena , Globa Evgenia , Guerra-Junior Gil , Guran Tulay , Hannema Sabine , Hiort Olaf , Janner Marco , Kalinchenko Natalia , Lachlan Katherine , Kolesinska Zofia , l’Allemand Dagmar , Lang-Muritano Mariarosaria , Lucas-Herald Angela , Martin Idoia Martinez de Lapiscina , Mazen Inas , Moenig Isabel , Muhrer Julia , Niedziela Marek , Nordenstrom Anna , Orman Burce , Poyrazoglu Sukran , Tack Lloyd , Tadokoro-Cuccaro Rieko , Wasniewska Malgorzata , Yavas Zehra , Zelinska Nataliya , Fluck Christa E ,

Background: Steroidogenic Factor 1 (NR5A1/SF-1) is essential for the development and function of human sex and steroid organs. Variants of SF-1 lead to a broad spectrum of phenotypes including adrenal insufficiency and differences of sex development (DSD), but data on the whole picture of phenotypes in individuals with SF-1 variants are currently lacking. We aim to investigate the phenotype of individuals with SF-1 variants in a large interna...