hrp0084p3-611 | Adrenals | ESPE2015

Methodological Considerations into the Approach for Genetic Diagnostics of Congenital Adrenal Hyperplasia in a Girl with SW Form and Relatively Higher Needs of Mineral Corticoids

Dineva Ganka , Stoeva Iva , Kirov Andrey , Todorova Albena , Iliev Daniel , Kaleva Narcis , Grozdanova L

Background: 80–95% of congenital adrenal hyperplasia (CAH) cases are due to mutations in the CYP21A2 gene encoding 21 hydroxylase. The residual activity of the gene defines the clinical form. Routine mutational screening of CYP21A2 defects is shown to effectively support the complex diagnostic and treatment procedure of newborns with CAH.Objective: We aimed to characterise the phenotype of a girl with compound heterozygosity of ...

hrp0095p2-146 | GH and IGFs | ESPE2022

GH responsiveness and IGF1 P2 promotor methylation

Apel Anja , I. Iliev Daniel , Urban Christina , Weber Karin , Schweizer Roland , Blumenstock Gunnar , Pasche Sarah , Nieratschker Vanessa , Binder Gerhard

Background: The methylation of IGF1 promoter P2 was reported to negatively correlate with serum IGF-1 concentration and rhGH treatment response in children with idiopathic short stature. These findings have not yet been confirmed.Objective: This study aimed to determine IGF1 promoter P2 methylation in short children treated with rhGH and correlate clinical parameters with the methylation status. In addition, long-term st...

hrp0089p2-p025 | Adrenals and HPA Axis P2 | ESPE2018

Very High Dehydroepiandrosterone Sulfate (DHEAS) in Serum of an Overweight Female Adolescent without a Tumor

Iliev Daniel , Braun Regina , Sanchez-Guijo Alberto , Wudy Stefan , Heckmann Doreen , Bruchelt Gernot , Rosner Anika , Grosser Gary , Geyer Joachim , Binder Gerhard

Here, we report on a female adolescent with overweight and a very high DHEAS serum level. The hypothesis that the origin of DHEAS excess was the presence of either an ovarian or a suprarenal DHEAS-producing tumor was not confirmed. Sonographic and MRT investigations did not support its presence. In addition, effective dexamethasone suppression of DHEA and DHEAS excluded this diagnosis. Steroid sulfatase (STS) hydrolyses alkyl and aryl steroid sulfates to their unconjugated for...