Endocrine Abstracts

Mutations in cyclin dependent kinase inhibitor 1B (CDKN1B) are associated with multiple endocrine neoplasia type 4 (MEN4), in which patients typically develop parathyroid and anterior pituitary tumours, and occasionally tumours of the pancreas, adrenals, kidneys and reproductive organs. Here, we report a family with a missense mutation of CDKN1B (p.Pro69Leu) that did not have MEN4-associated tumours, but instead had hypomagnesaemia. The proband, presented wit...

Background: Cadmium (Cd) is considered as a human carcinogen. A potential intermediate mechanism could be hormone-related by disturbing steroidogenesis in gonads and adrenal glands. We tested whether urinary Cd excretion, as a marker of long-term exposure, is associated with the urinary steroid profile in the general adult population.Methods and Findings: The Swiss Kidney Project on Genes in Hypertension (SKIPOGH) is a multicentric family-based populatio...

Background: Urinary steroid metabolomics by GC-MS is an established method in clinic and research to describe steroidogenic disorders, but normative data are scarce.Methods: The 24-hour urinary excretion of 40 steroid metabolites was measured by GC-MS in 1128 adult participants of the Swiss Kidney Project on Genes in Hypertension (SKIPOGH), a multicenter, family-based, cross-sectional study. Sex- and age-specific reference ranges were created in the unit...