Searchable abstracts of presentations at key conferences in endocrinology

ea0026p590 | Clinical case reports | ECE2011

A case of two novel mutations in the LHCGR gene in a patient with 46,XY DSD

Athanasoulia Anastasia , Noe Sebastian , Stalla Gunter

Introduction: Leydig cell hypoplasia (LCH) is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals. It is mediated by mutations in the luteinizing hormone receptor gene (LHCGR), most frequently located in the coding sequence, resulting in impairment of either LH/CG binding or signal transduction.Case report: We report a 32-year-old female which presented with primary amenorrhea, fema...

ea0056gp181 | Parathyroid | ECE2018

Is there HIV-associated hypoparathyroidism?

Noe Sebastian , Heldwein Silke , Oldenbuttel Celia , Jager Hans , Wolf Eva

Background: Parathyroid hormone (PTH) secretion in response to hypocalcemia was found to be altered in people living with HIV (PLWH) and HIV infection has therefore been acknowledged as a potential reason for hypoparathyroidism (HPO).Aim: To describe the prevalence of HPO in a population of PLWH.Methods: Monocentric, retrospective sub-study of the Munich ArcHIV cohort.Results: 579 patients (461 men (79.6%)) w...

ea0041gp168 | Pituitary - Clinical (1) | ECE2016

Dynamics of adrenocorticotropin after stimulation with metyrapone (DYNAMO)

Noe Sebastian , von Werder Alexander , Iakoubov Roman , Neu Bruno , Schneider Heike , Thaler Markus , Luppa Peter

Purpose: To investigate the kinetics of adrenocorticotropin (ACTH) following oral metyrapone administration and describe differences between ACTH-deficient and non ACTH-deficient subjects.Methods: Patients from a tertiary endocrine center at a University Hospital in Munich, Germany, were tested. Metyrapone (Metopirone, HRA Pharma, France) was administered with a dosage of 40 mg/kg bodyweight at 0800 h. Consecutive levels of ACTH were determined at 0, 60,...