ArticleMolecular medicine reports2017
17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report.
Article in Molecular medicine reports, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Associations Between Follicular Fluid Biomarkers and IVF/ICSI Outcomes in Normo-Ovulatory Women-A Systematic Review.Biomolecules · 2025Pooled it
- Phthalate Exposures and Placental Health in Animal Models and Humans: A Systematic Review.Toxicological sciences : an official journal of the Society of Toxicology · 2022Pooled it
- A differential expression of an identical mutation in CYP17A1 gene in two infertility patients: a case report.Journal of medical case reports · 2024Article
- Article
- Multiplexed Serum Steroid Profiling Reveals Metabolic Signatures of Subtypes in Congenital Adrenal Hyperplasia.Journal of the Endocrine Society · 2023Article
- Prior to versus after Metformin Treatment-Effects on Steroid Enzymatic Activities.Life (Basel, Switzerland) · 2023Article
- Refractory hypokalemia with sexual dysplasia and infertility caused by 17α-hydroxylase deficiency and triple X syndrome: A case report.Open life sciences · 2023Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
- How Is CYP17A1 Activity Altered in Autism? A Pilot Study to Identify Potential Pharmacological Targets.Life (Basel, Switzerland) · 2022Article
- A Novel Heterozygous Mutation of the CYP17A1 Gene in a Child with a Micropenis and Isolated 17,20-Lyase Deficiency.International journal of environmental research and public health · 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
- Case report: 17α- hydroxylase deficiency due to a hotspot variant and a novel compound heterozygous variant in theFrontiers in pediatrics · 2022Article
- Two cases of 17α-hydroxylase/17,20-lyase deficiency caused by the CYP17A1 mutation.Annals of pediatric endocrinology & metabolism · 2021Article
- The Role of Biomarkers in Adrenocortical Carcinoma: A Review of Current Evidence and Future Perspectives.Biomedicines · 2021Review
- 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
- 46,XY Disorder of Sex Development Caused by 17Case reports in endocrinology · 2018Article
- 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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5 authors.
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Abstract
Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder caused by mutations in the cytochrome P450 family 17 subfamily A member 1 (CYP17A1) gene located on chromosome 10q24.3, which leads to a deficiency in 17α‑hydroxylase/17,20‑lyase. The disorder is characterized by low blood levels of estrogens, androgens and cortisol, which leads to a compensatory increase in adrenocorticotropic hormone levels that stimulate the production of mineralocorticoid precursors. This subsequently leads to hypertension, hypokalemia, primary amenorrhea and sexual infantilism. Over 90 distinct genetic lesions have been identified in patients with this disorder. The prevalence of common mutation of CYP17A1 gene differs among ethnic groups. Treatment of this disorder involves replacement of glucocorticoids and sex steroids. Estrogen alone is prescribed for patients who are biologically male with 17α‑hydroxylase deficiencies that identify as female. However, genetically female patients may receive estrogen and progesterone supplementation. In the present study, a 17‑year‑old female with 17α‑hydroxylase/17,20‑lyase deficiency that presented with primary amenorrhea and sexual infantilism and no hypertension, was examined. The karyotype of the patient was 46, XX, and genetic analysis revealed the presence of a compound heterozygous mutation in exons 6 and 8, leading to the complete absence of 17α‑hydroxylase/17,20‑lyase activity. The patient was treated with prednisolone and ethinyl estradiol. In addition, a summary of the recent literature regarding CAH is presented.
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