hrp0084p1-136 | Turner & Puberty | ESPE2015

The Eap1 Promoter is Differentially Methylated at the Onset of Puberty in Normal Weight and Obese Female Rats

Moeller Hanna , Heger Sabine

Background: Mammalian puberty is initiated by the pulsatile release of gonadotropin-releasing hormone (GnRH) from hypothalamic neurons. Enhanced at puberty (Eap) 1 is a transcription factor within this regulatory network integrating exogenous and endogenous informations, e.g. weight. Recent studies indicate an epigenetic regulation of the pubertal process.Objective and hypotheses: This study investigates if overweight modifies epigenetic marks i...

hrp0084p1-113 | Puberty | ESPE2015

Relevance of Astrocytic Signals for GnRH-Neuronal Function

Ernst Johanna , Moeller Hanna , Pfeifer Manuel , Heger Sabine

Background: Gonadotropin releasing hormone (GnRH)-secretion is not only regulated by neuronal factors but also by astroglia cells via growth factors (transforming growth factor α (TGFα), neuregulin (NRG)), prostaglandin E2 (PGE2) and the erbB receptor family. Mutations of TGFα and erbB1 result in an impaired reproductive capacity. Mice show a characteristically skin phenotype with wavy hair and curly whiskers. The rat strain SPRD-Cu3 (curly) shows a sim...

hrp0082p2-d1-454 | Growth | ESPE2014

Endocrine characteristics of patients with anorexia nervosa in a large paediatric study cohort

Toenne Moritz , Datz Nicolin , Heger Sabine , Hartmann Rainhard , Danne Thomas , Kuznik Gerd , Neuhaus Burkhard , Kordonouri Olga

Aim: To examine the prevalence of endocrine abnormalities and outcome in children and adolescents with Anorexia nervosa (AN).Methods: The study cohort consisted of 181 patients (age 14.6±1.9 years; 160 girls, 21 boys) with AN (n=137), atypical AN (n=6) and other eating disorders except of Bulimia (n=38) who were hospitalized between Jan 2010 and Feb 2013. Somatometric [body-mass-index (BMI), BMI-SDS] and endocrine parameters were a...

hrp0089ha1 | EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty | ESPE2018

EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter that Leads to Self-Limited Delayed Puberty

Mancini Alessandra , Howard Sasha R , Cabrera Claudia P , Barnes Michael R , Heger Sabine , Guasti Leonardo , Ojeda Sergio , Dunkel Leo

Background: The initiation of puberty is orchestrated by the augmentation in the secretion of gonadotropin-releasing hormone (GnRH) from a few thousand neurons located in the hypothalamus. Recent findings identified that the neuroendocrine control of puberty is regulated by a network of transcriptional factors hierarchically organized, but this still remains not fully elucidated. Enhanced At Puberty 1 (EAP1) is one of the main regulators of pubertal onset and it is ex...

hrp0095rfc6.3 | Sex Development and Gonads | ESPE2022

Reference intervals of serum estradiol during childhood: comparing and reviewing five studies, effects of gender and age

Lamprecht Tabea , Reinehr Thomas , Kleber Michaela , Rothermel Juliane , Schulz Esther , Simic-Schleicher Gunter , Heger Sabine , Holterhus Paul-Martin , Kulle Alexandra

Background: Specific measurement of low serum / plasma concentrations of 17β-estradiol (E2) is important in pre-pubertal and pubertal children in routine paediatric endocrinology. However, there is still a gap in available reference intervals (RIs) for E2 in paediatrics. The study was partially funded by the German Ministry of Health, grant number 2519FSB503.Objective: First, we technically developed a highly sensit...

hrp0082p2-d1-264 | Adrenals & HP Axis | ESPE2014

LC–MSMS Profiling of Plasma Steroids in Different Types of Congenital Adrenal Hyperplasia

Kulle Alexandra E. , Reinehr Thomas , Akkurt Halit Ilker , Commentz Christian , Heger Sabine , Simic-Schleicher Gunter , Welzel Maik , Hornig Nadine C. , Holterhus Paul-Martin

Background: Congenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive disorders which lead to impairment of steroid biosynthesis in the adrenals and gonads. 21-hydroxylase deficiency (21OHD) is the most common form of CAH (95%), followed by 11β-hydroxylase deficiency (11OHD) and 3β-dehydrogenase steroid dehydrogenase type 2 deficiency (3bHSD2). LC–MSMS based steroid analysis has become an increasingly important method for steroid analyses i...

hrp0094p1-120 | Fat, Metabolism and Obesity B | ESPE2021

Monogenic obesity in children: focusing on SH2B1 deletion

Giannopoulou Eleni Z , Zorn Stefanie , Schirmer Melanie , Herrmann Gloria , Heger Sabine , Reinehr Thomas , Denzer Christian , Rabenstein Hannah , Schnurbein Julia von , Wabitsch Martin ,

Introduction: Monogenic obesity refers to a group of rare, early-onset forms of obesity and accounts for about 7% of patients with severe pediatric obesity. Recent reports demonstrate the emerging role of Src-homology-2 (SH2) B adaptor protein 1 (Sh2b1), an important component in the leptin-melanocortin pathway, as a key regulator of leptin and insulin signaling, with possible roles in the pathogenesis of obesity and diabetes. SH2B1 deletions are found to be a...

hrp0089rfc1.6 | Adrenals & HPA Axis | ESPE2018

A Laboratory Harmonization Strategy for Steroid Hormone Profiling by MoM-Transformed, Normalized Reference Ranges Independent of Age, Sex and Units

Kulle Alexandra E , Zalas Dominika , Reinehr Thomas , Niedziela Marek , Borzikowsky Christoph , Pinto Francisca , Baumann Juliane , Flader Maciej , Simic-Schleicher Gunter , Akkurt Halit Ilker , Heger Sabine , Hornig Nadine , Holterhus Paul-Martin

Background/aims: The high complexity of Pediatric reference ranges across age, sex and units impairs clinical application and comparability of steroid hormone data, e.g., in CAHs. We developed a Multiples-of-Median (MoM) normalization tool to overcome this major drawback in Pediatric Endocrinology.Methods: LC–MS/MS data comprising 10 steroid hormones representing 905 controls (555 males, 350 females, 0 to >16 years) from two previous datasets we...