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Author

A. Matrejek

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Open access Aug 2026

P3 - ECE_1584 - A novel homozygous mutation of CYP17A1 gene in a 20-year old 46, XY phenotypical male with hypergonadotropic hypogonadism and gynecomastia

Congenital adrenal hyperplasia (CAH) comprises autosomal recessive disorders of adrenal steroidogenesis. 17α-hydroxylase/17, 20-lyase deficiency (17-OHD) is a rare subtype (~1% of CAH) caused by pathogenic variants in CYP17A1. In 46, XY individuals, complete deficiency typically leads to female or ambiguous exter...

Karolina Kucharczyk, Anna Nogieć, G. Sokołowski et al. · 0 citations
Open access Sep 2026

Adrenal incidentalomas: 1 mg dexamethasone test result in the context of cardiometabolic risk.

PURPOSE Mild autonomous cortisol secretion (MACS) is the most common hormonal abnormality in adrenal incidentalomas. The 1 mg dexamethasone suppression test (DST) with a cutoff of 1.8 µg/dL is used to exclude hypercortisolism, yet some "non-functioning" tumors may secrete cortisol at concentrations below this threshold...

J. Kokoszka, M. Opalińska, Magdalena Fiema et al. · 0 citations

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