hrp0089p2-p340 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P2 | ESPE2018

Awareness is The Key: Heavy Delay in Diagnosis of 17-β-Hydroxysteroid-Dehydrogenase III Deficiency (17bHSD3D) and Other Insights and Conclusions from a Cohort of Ten 17bHSD3D Patients in Germany

Meinel Jakob , Grossmuller Nadine , Richter-Unruh Annette

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

hrp0092rfc10.4 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

qPCR Screening for Xp21.2 Copy Number Variations in Patients with Elusive Aetiology of 46,XY DSD

Meinel Jakob , Dwivedi Gaurav , Holterhus Paul-Martin , Hiort Olaf , Werner Ralf

Duplications of the dosage sensitive sex locus Xp21.2 have been associated with 46,XY gonadal dysgenesis (GD) for nearly 25 years. In the past, duplications have always included the NR0B1 (nuclear receptor subfamily 0 group B, member 1, also known as DAX1) gene, a known antagonist of SF1 (Steroidogenic Factor 1) dependent SOX9 (SRY Box 9) activation and the GD was attributed to its "double gene dose". However, recent findings have questioned the neces...

hrp0086p1-p13 | Adrenal P1 | ESPE2016

Establishment of Clinical and Lab Algorithms for the Identification Carriers of Mutations in CYP21A2 – A Study of 768 Children and Adolescents

Meinel Jakob , Finckh Ulrich , Schuster Andreas , Haverkamp Thomas , Richter-Unruh Annette

Background: Bi-allelic mutations of CYP21A2 encoding 21-hydroxylase are the most frequent cause of congenital adrenal hyperplasia (CAH). Non-classical CAH (NCCAH) or even just hyperandrogenism may be caused by mild or mono-allelic (single) heterozygous mutations of CYP21A2. These mutations are associated either with elevated basal or ACTH-stimulated levels of 17-hydroxyprogesterone (17OHP) in blood.Objective and hypotheses: The objective of this study wa...