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Updated: Mar 2, 2026

Isolation, Fixation, and Immunofluorescence Imaging of Mouse Adrenal Glands
Published on: October 2, 2018
Disorders of Adrenal Steroidogenesis: Impact on Gonadal Function and Sex Development
Christiaan F Mooij1, Antonius E van Herwaarden2, Hedi L Claahsen-van der Grinten1
1Department of Pediatric Endocrinology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands.
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.
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