Searchable abstracts of presentations at key conferences in endocrinology

ea0041s28.2 | Adrenal Insufficiency: Causes and management | ECE2016

Genetics of adrenal insufficiency

Fluck Christa

Genetic defects causing primary, central secondary or tertiary adrenal insufficiency (AI) belong to the group of rare diseases that involve multiple candidate genes. In primary AI adrenal defects lead to hormonal deficiencies. Underlying genetic mutations may be found either in genes involved in the development of the adrenal gland (e.g. DAX1/NR0B1) or in genes that are essential for the signaling, regulation (e.g. MC2R, MRAP) or the biosynthesis of steroid hormones (e.g. StAR...

ea0032s3.2 | Female reproduction | ECE2013

NR5A1/SF-1 and gonadal development and function

Fluck Christa

Steroidogenic factor 1 (SF-1/NR5A1) is a regulator of steroid hormone biosynthesis and sex development. It was first identified in a 46,XY newborn with complete sex reversal and primary adrenal insufficiency. Most 46,XY patients carrying heterozygote NR5A1 mutations manifest with a disorder of sexual development (DSD) phenotype, although an adrenal only phenotype has also been described in one 46,XX patient. Mutations in NR5A1 may be found in up to 9% of 46,XY subjects with mi...

ea0022p510 | Growth factors | ECE2010

Growth failure in a girl harbouring digenic heterozygote mutations in the Ferroportin1-gene and the HFE-gene

Janner Marco , Fluck Christa , Galllati Sabina , Mullis Primus

Background: GH deficiency due to iron overload is well known in thalassaemic children, yet this association has not been described in children with haemochromatosis.Case report and methods: We report on a girl who was first seen at the age of 9.6 years (height 117.5 cm, −3.3 SDS, weight 21 kg, −2.5 SDS). She had a normal physical examination and was prepubertal. Target height-SDS was −0.9. Her bone age was delayed by 10 months. IGF1 was...

ea0049ep1090 | Clinical case reports - Thyroid/Others | ECE2017

A rare cause of a 46, XY disorder of sex development diagnosed in an adult patient

Feller Katrin , Fluck Christa , Audi Laura , Fernandez-Cancio Monica , Stettler Christoph

The defective conversion of testosterone to dihydrotestosterone due to a steroid 5-alpha-reductase 2 deficiency results in a unique form of 46, XY disorder of sexual development (DSD). Dihydrotestosterone is essential for the embryonic differentiation of the external male genitalia and the prostate. Steroid 5-alpha-reductase 2 deficiency is an autosomal recessive disorder in which genetic males have a predominantly female phenotype with female external genitalia but male inter...

ea0014p1 | (1) | ECE2007

Human adrenal NCI-H295R cells produce more C19 steroids than NCI-H295A cells – a possible model to study regulation of androgen biosynthesis?

Samandari Elika , Kempna Petra , Hoffer Gaby , Mullia Primus E , Fluck Christa E

The human adrenal cortex consists of three layers in which specific steroid hormones are produced. Human adrenal NCI-H295A (A) and NCI-H295R (R) cells, originate from the same adrenocortical tumor and express all genes essential for steroidogenesis. Therefore they often serve as a suitable model to study human steroidogenesis. No data are available comparing steroidogenesis of A vs. R cells. Assuming no difference, research data from these two cell lines are directly compared....

ea0049gp153 | Neuroendocrinology & Growth Hormones | ECE2017

Evaluating CHARGE syndrome in CHD7-positive CHH patients: clinical implications

Xu Cheng , Cassatella Daniele , Sloot Almer van der , Hauschild Michael , Quinton Richard , De Geyter Christian , Fluck Christa , Feller Katrin , Bartholdi Deborah , Nemeth Attila , Halperin Irene , Djurdjevic Sandra Pekic , Papadakis Georgios , Dwyer Andrew , Marino Laura , Pignatelli Duarte , Huang Carol , Niederlander Nicolas , Acierno James , Pitteloud Nelly

Context: Congenital hypogonadotropic hypogonadism (CHH) and CHARGE syndrome are clinically and genetically overlapping syndromes, with mutations in the CHD7 gene presenting in both disorders. However systematic evaluation of CHARGE features in CHD7-positive CHH patients is seldom performed.Objective: This study aims to systematically evaluate CHARGE features in CHD7-positive patients and explore the phenotype-genotype correlation.<p...