hrp0086p1-p342 | Gonads & DSD P1 | ESPE2016

Genotype-phenotype Analysis of NR5A1/SF1 Mutations by Functional in vitro Studies

Astudillo Rebekka , Bashamboo Anu , Kleinau Gunnar , Biebermann Heike , Krude Heiko , Kohler Birgit

Background: The steroidogenic Factor 1 (SF1, NR5A1) is one of the key factors involved in gonadal and adrenal development and steroidogenesis. Until now, over 50 mutations were described in different phenotypes of XY disorders of sex development (DSD) such as complete gonadal dysgenesis, severe and mild partial gonadal dysgenesis, hypospadias, infertility and bilateral anorchia. So far, no genotype-phenotype correlation could be demonstrated.Objective an...

hrp0082fc13.2 | Thyroid | ESPE2014

Thyroid Agenesis and Severe Thyroid Hypoplasia Caused by a New Inactivating TSH Receptor Mutation Ala579Val

Wessel Theda , Handke Daniela , Kleinau Gunnar , Winkler Franziska , Gruters Annette , Kuhnen Peter , Krude Heiko , Biebermann Heike

Background: Congenital thyroid dysgenesis usually occurs sporadically and may even be discordant in monozygotic twins. However, when caused by inactivating mutations in the TSH receptor (TSHR) it can be inherited recessively, typically resulting in thyroid gland hypoplasia. We present a new familial case of thyroid dysgenesis with two siblings of consanguineous parents. The daughter was identified in neonatal screening with severely elevated TSH and thyroid agenesis on ultraso...

hrp0084p3-1223 | Thyroid | ESPE2015

Clinical Course in a Girl with hTPO Mutation R161I in Exon 5: 18 Years of Follow-Up

Stoeva Iva , Ambrugger Petra , Stoilov Boris , Dineva Ganka , Biebermann Heike , Grueters Annette

Background: Of the several genetic defects responsible for thyroid dyshormonogenesis, mutations in TPO gene are the most prevalent causes of inherited defects in CH. Prevalent mutations are in exons 8–11 (catalytic site).Case presentation: Girl, born at term (s.c) picked up by TSH screening and start of LT4 treatment at d14 with 14 μg/kg per day (table 1), clinical signs: no goiter, hypotonia, dry skin, posterior fontanel >5 mm, ...

hrp0086p1-p916 | Thyroid P1 | ESPE2016

Papillary Thyroid Carcinoma in a Mother and Child Evolving after the Manifestation of Grave’s Disease

Al Badi Maryam , Lankes Erwin , Kuehnen Peter , Al Semani Aisha , Biebermann Heike , Krude Heiko , Schmid Kurt , Grueters Annette

Background: Familial PTC manifesting in childhood has been described only in single cases, mainly in the context of rare syndromes (APC-associated-syndrome, PTEN-hamartoma syndromes etc). PTC in Grave’s disease (GD) has been described in adults, but not in familial cases including young children.Objective and hypotheses: We investigated the association of large metastatic papillary carcinoma (PTC) in a 10 years old female and her mother evolving rap...

hrp0097fc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Analysis of ligand- and mutation-dependent signaling of the melanocortin 4 receptor (MC4R): an example of the relevance of differential signaling (bias signaling)

Ruck Lisa , Paisdzior Sarah , Scheerer Patrick , Wiegand Susanna , Kleinau Gunnar , A. Heyder Nicolas , G. Beck-Sickinger Annette , C. Troll Manuel , Biebermann Heike , Kühnen Peter

Introduction: The melanocortin 4 receptor (MC4R) is a G protein coupled receptor (GPCR) and plays a pivotal role in the central regulation of body weight in the hypothalamus. In the context of the leptin-melanocortin signaling pathway, the MC4R is activated by the endogenous ligands a- and b-MSH (melanocyte-stimulating hormone). This leads to the feeling of satiety and to a reduction in food intake. Mutations within the genes leptin, leptin receptor (LEPR), pr...