hrp0094p2-247 | Growth hormone and IGFs | ESPE2021

A girl with concurrent congenital adrenal hyperplasia, isolated growth hormone deficiency type II (IGHD II) and a new mutation in the GH 1 gene – an extremely unusual case

Genthner N , Blum W , Kamrath C , Wudy SA ,

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

hrp0082p2-d1-515 | Pituitary | ESPE2014

High Prevalence of PROP1 Gene Defects Among Patients with Multiple Pituitary Hormone Deficiency in Lithuania

Navardauskaite Ruta , Dusatkova Petra , Obermannova Barbora , Pfaeffle Roland W , Blum Werner F , Adukauskiene Dalia , Smetanina Natalija , Cinek Ondrej , Verkauskiene Rasa , Lebl Jan

Background: Mutations in PROP1 are the most common known genetic cause of congenital multiple pituitary hormone deficiency (MPHD).Objective and hypotheses: Aim of our study was to clinically and genetically characterize a cohort of Lithuanian patients with MPHD.Method: Seventy-six Lithuanian MPHD patients were tested for PROP1 gene by Sanger sequencing. Hormonal investigations, pituitary imaging and GH therapy wer...