Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development.

Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development. Pediatr Endocrinol Rev. 2016 Dec;14(2):109-128 Authors: Mooij CF, van Herwaarden AE, Claahsen-van der Grinten HL Abstract A defect in adrenal steroidogenesis may cause a disorder of sex development (DSD). Importantly, DSD of adrenal origin is not restricted to a genital phenotype but is in most cases accompanied by mild to severe impairment in glucocorticoid and/or mineralocorticoid synthesis. If a patient is suspected of DSD of adrenal origin evaluation of glucocorticoid and mineralocorticoid metabolism is therefore essential to provide adequate medical care in the case of a severe and potentially life-threatening insufficiency. The adrenal steroidogenic defects causing DSD, their clinical features and diagnostic work-up are discussed. In this review we provide an overview of defects in the adrenal steroidogenesis and its impact on gonadal function and sex development. PMID: 28508605 [PubMed - in process]
Source: Pediatric Endocrinology Reviews - Category: Endocrinology Tags: Pediatr Endocrinol Rev Source Type: research