ArticleClinical case reports2022
17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.
Article in Clinical case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Renal Hypokalemia: An Endocrine Perspective.The Journal of clinical endocrinology and metabolism · 2024Review
- A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.Cureus · 2024Article
- A Chinese girl with delayed puberty due to 17α-hydroxylase deficiency: the diagnosis, treatment and monitoring approach.Endocrinology, diabetes & metabolism case reports · 2023Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report a young adult woman with 17 alpha-hydroxylase deficiency (17α-OHD) in Shandong province of China. The patient carried compound heterozygous mutations in the CYP17A1 gene: c.985-987 delinsAA (p.Tyr329LysfsX90) and c.1486C > T (p.Arg496Cys). The patient's hypertension and hypokalemia were resolved after taking medications of glucocorticoid, aldactone, and calcium antagonists.
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