ArticleAnnals of pediatric endocrinology & metabolism2021
Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.
Article in Annals of pediatric endocrinology & metabolism, 2021. 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, 6 citations in OpenAlex.
- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.Endocrine · 2026Article
- A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.Cureus · 2024Article
- Pediatric Endocrine Hypertension Related to the Adrenal Glands.Ewha medical journal · 2023Review
- An elderly patient with 17α-hydroxylase deficiency misdiagnosed as primary aldosteronism: a case report.BMC endocrine disorders · 2022Article
- Ovarian gonadoblastoma with dysgerminoma in a girl with 46,XX karyotype 17a-hydroxylase/17, 20-lyase deficiency: A case report and literature review.Frontiers in endocrinology · 2022Review
- A rare case of 17α-hydroxylase/17, 20-lyase deficiency: Clinical and genetic findings and follow-up outcomes.Women's health (London, England)Article
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7 authors at 1 institution in 1 country.
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Abstract
17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.
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