ArticleBMJ case reports2019
Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.
Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 8 citations in OpenAlex.
- Successful live birth in a woman with partial 17α-hydroxylase/17,20 lyase deficiency: a case report.Frontiers in medicine · 2026Article
- Clinicoradiologic diagnosis of a rare type of congenital adrenal hyperplasia: A case report from Nepal.Clinical case reports · 2022Article
- Reproductive endocrine characteristics andFrontiers in endocrinology · 2022Review
- Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients.Frontiers in endocrinology · 2022Article
- Nonclassic Congenital Adrenal Hyperplasia: What Do Endocrinologists Need to Know?Endocrinology and metabolism clinics of North America · 2021Review
- Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.Frontiers in pediatrics · 2020Review
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) due to 17α-hydroxylase deficiency, a rare CAH syndrome, is characterised by failure to synthetise cortisol, adrenal androgens and gonadal steroids. The partial deficiency is much rarer, presenting with subtler symptoms. Failure to reach a proper diagnosis causes inappropriate hypertension treatment and impairs the development of secondary sexual characteristics. We report a case of a 30-year-old woman transferred to an endocrinology clinic for evaluation of autoimmune thyroiditis. She was started on oral contraceptives at the age of 13 due to oligomenorrhea and presented underdeveloped pubic and axillar hair and Tanner stage 3 breast development. Biochemical tests evidenced very low androgens levels and genetic analysis confirmed a CAH due to 17α-hydroxylase deficiency. Partial 17α-hydroxylase deficiency is a rare clinical entity, nevertheless, it should be included in the differential diagnosis of menstrual disorders.
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