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    Did you mean 21-hydroxylase deficiency?
    Glossary 21-hydroxylase deficiency

    genetic disorder impairing adrenal hormone production, causing excess androgens

    21-hydroxylase deficiency, also known as 21-OHD, is a genetic disorder that affects the adrenal glands' ability to produce certain hormones, specifically cortisol and aldosterone. This enzyme deficiency leads to an overproduction of androgens, which can cause symptoms such as ambiguous genitalia in newborns, early puberty, and severe salt-wasting crises.

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    1. Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study Fertility and Sterility · 1999 · 216 citations
    2. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women Human Reproduction Update · 2017 · 117 citations
    3. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    4. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    5. The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis Clinical Endocrinology · 2015 · 25 citations
    6. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    7. Steroid 17-Hydroxyprogesterone in Hair Is a Potential Long-Term Biomarker of Androgen Control in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Neuroendocrinology · 2019 · 10 citations
    8. Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman Arquivos Brasileiros De Endocrinologia E Metabologia · 2012 · 4 citations
    9. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    10. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
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