Rare forms of genetic steroidogenic defects affecting the gonads and adrenals.

Abstract excerpt

Pathogenic variants have been found in all genes involved in the classic pathways of human adrenal and gonadal steroidogenesis. Depending on their function and severity, they cause characteristic disorders of corticosteroid and/or sex hormone deficiency, may result in atypical sex development at birth and/or puberty, and mostly lead to sexual dysfunction and infertility. Genetic disorders of steroidogenesis are...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Glands
• Share to Gonads
• Share to Phenotype