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...

hrp0086rfc1.2 | Adrenals | ESPE2016

Glucocorticoid Deficiency Due to Disruption of Mitochondrial Steroidogenesis Leads to Dysregulation of Antioxidant Pathways and Nucleotide Biosynthesis

Weger Meltem , Gorling Benjamin , Poschet Gernot , Griffin Aliesha , Hell Rudiger , Luy Burkhard , Muller Ferenc , Krone Nils

Glucocorticoids are important regulators of systemic homeostasis. However, the role of these steroid hormones has been mainly studied by using synthetic glucocorticoids or in states of glucocorticoid excess. Thus, the pathophysiologic consequences of cortisol deficiency on metabolic and biosynthesis pathways remain largely elusive. Zebrafish is a well-established vertebrate model for studying whole organism biology. Similar to humans, zebrafish are day active and the key gluco...

hrp0094p2-429 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2021

4-year-old female patient with mixed germ cell tumor and underlying Cowden syndrome

Habacht Daniela , Boztug Heidrun , Engstler Gernot , Kager Leo , Boztug Kaan , Pauer Sophie , Amann Gabriele , Zeitlhofer Petra , Riedl Stefan

Cowden syndrome (CS) is a cancer predisposition syndrome. The clinical hallmarks of CS are macrocephaly and mucocutaneous lesions. Several tumor types have been described, mostly malignancies of the breast, thyroid, endometrium, kidney and colorectum. The age of onset is extremely variable. So far, only two case reports of children with ovarian tumors in the context of CS have been published, a granulosa cell tumor of a 16-year-old girl (Smpokou et al. 2014) and a bilateral en...