ArticleClinical and experimental reproductive medicine2015
A case of 17 alpha-hydroxylase deficiency.
Article in Clinical and experimental reproductive medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 46 citations in OpenAlex.
- Successful live birth in a woman with partial 17α-hydroxylase/17,20 lyase deficiency: a case report.Frontiers in medicine · 2026Article
- Mayer-Rokitansky-Kuster-Hauser Syndrome: From Radiological Diagnosis to Further Challenges-Review and Update.Diagnostics (Basel, Switzerland) · 2026Review
- Assisted reproductive treatment for primary infertility in patients with partial or isolated 17α-hydroxylase/17,20-lyase deficiency: a case series and literature review.Journal of assisted reproduction and genetics · 2025Review
- Rare secondary hypertension caused by compound heterozygousEuropean heart journal. Case reports · 2024Article
- A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.Cureus · 2024Article
- Diagnosis of 17-alpha hydroxylase deficiency performed late in life in a patient with a 46,XY karyotype.Endocrinology, diabetes & metabolism case reports · 2023Article
- Case report: Management challenges of late diagnosed 17-alpha hydroxylase deficiency.Clinical case reports · 2023Article
- Clinical Features of Unrecognized Congenital Adrenal Hyperplasia Due to 17α-hydroxylase Deficiency Since Adolescence: A Case Report.Journal of the ASEAN Federation of Endocrine Societies · 2023Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
- Clinicoradiologic diagnosis of a rare type of congenital adrenal hyperplasia: A case report from Nepal.Clinical case reports · 2022Article
- Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report.World journal of clinical cases · 2022Article
- Reproductive endocrine characteristics andFrontiers in endocrinology · 2022Review
- Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.Annals of pediatric endocrinology & metabolism · 2021Article
- Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.Oxford medical case reports · 2020Article
- DDIEM: drug database for inborn errors of metabolism.Orphanet journal of rare diseases · 2020Article
- Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.Frontiers in pediatrics · 2020Review
- Partial deficiency of 17α-hydroxylase: a rare cause of congenital adrenal hyperplasia.BMJ case reports · 2019Article
- Diagnosis of female 17α-hydroxylase deficiency after gonadectomy: a case report.Journal of medical case reports · 2019Article
- [17α-Hydroxylase deficiency with severe hypertension as the initial symptom in a child].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2018Article
- 17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.Molecular medicine reports · 2017Article
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
17α-hydroxylase and 17,20-lyase are enzymes encoded by the CYP17A1 gene and are required for the synthesis of sex steroids and cortisol. In 17α-hydroxylase deficiency, there are low blood levels of estrogens, androgens, and cortisol, and resultant compensatory increases in adrenocorticotrophic hormone that stimulate the production of 11-deoxycorticosterone and corticosterone. In turn, the excessive levels of mineralocorticoids lead to volume expansion and hypertension. Females with 17α-hydroxylase deficiency are characterized by primary amenorrhea and delayed puberty, with accompanying hypertension. Affected males usually have female external genitalia, a blind vagina, and intra-abdominal testes. The treatment of this disorder is centered on glucocorticoid and sex steroid replacement. In patients with 17α-hydroxylase deficiency who are being raised as females, estrogen should be supplemented, while genetically female patients with a uterus should also receive progesterone supplementation. Here, we report a case of a 21-year-old female with 17α-hydroxylase deficiency who had received inadequate treatment for a prolonged period of time. We also include a brief review of the recent literature on this disorder.
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