ArticleWorld journal of clinical cases2021
17α-hydroxylase/17,20 carbon chain lyase deficiency caused by p.Tyr329fs homozygous mutation: Three case reports.
Article in World journal of clinical cases, 2021. 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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4 citing papers in PubMed, 6 citations in OpenAlex.
- Bone Microarchitecture and Volumetric Mineral Density Assessed by HR-pQCT in Patients with 21- and 17α-Hydroxylase Deficiency.Calcified tissue international · 2023Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
- Clinical and Genetic Analysis of a Patient With Coexisting 17a-Hydroxylase/17,20-Lyase Deficiency and Moyamoya Disease.Frontiers in genetics · 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
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7 authors at 2 institutions in 1 country.
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Abstract
backgroundp.Tyr329fs is a cytochrome P450c17 mutation among Chinese individuals. However, data on 17-α-hydroxylase deficiency caused by cytochrome P450c17 p.Tyr329fs homozygous mutation are lacking. This paper is a case report of three patients homozygous for p.Tyr329fs who were diagnosed with 17-α-hydroxylase deficiency between 2005 and 2019. CASE SUMMARY: Case 1 presented with hypertension, hypokalemia, sexual infantilism and delayed bone age. The patient had a 46, XY karyotype, was homozygous for p.Tyr329fs and was recently treated with dexamethasone 0.375 mg qn. Case 2 presented with hypokalemia, sexual infantilism, osteoporosis and delayed bone age. The patient had a 46, XY karyotype, was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn at the last follow-up. Serum potassium and blood pressure could be maintained within normal range for cases 1 and 2. Case 3 presented with amenorrhea, sexual infantilism, osteopenia and delayed bone age. The patient had a 46, XX karyotype, was homozygous for p.Tyr329fs and was treated with dexamethasone 0.75 mg qn and progynova 1 mg qd. Outpatient follow-up revealed an adrenocorticotropic hormone (8 AM) of < 5.00 pg/mL.
conclusionThe homozygous p.Tyr329fs mutation usually manifests as a combined deficiency, and definitive diagnosis depends primarily on genetic testing.
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