ArticleIranian journal of medical sciences2016
Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature.
Article in Iranian journal of medical sciences, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Review
- Cytochrome P450 family 17 subfamily A member 1 mutation causes severe pseudohermaphroditism: A case report.World journal of clinical cases · 2022Article
- 17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.Journal of the Endocrine Society · 2022Article
- Case report: Adrenal myelolipoma resected by laparoscopic surgery.Frontiers in oncology · 2022Article
- [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
- A Rare Cause of Congenital Adrenal Hyperplasia: Clinical and Genetic Findings and Follow-up Characteristics of Six Patients with 17-Hydroxylase Deficiency Including Two Novel MutationsJournal of clinical research in pediatric endocrinology · 2018Article
- A Study on the Association Between Polymorphisms in the Cytochrome P450 Family 17 Subfamily A Member 1 Gene Region and Type 2 Diabetes Mellitus in Han Chinese.Frontiers in endocrinology · 2018Article
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Authors and funding
2 authors.
Funding
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Abstract
Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenorrhea and lack of sexual development. The karyotype was 46, XY. Hormonal evaluation showed low serum levels of all steroid hormones, requiring alpha-hydroxylation, which included cortisol, 17 alpha-hydroxy progesterone, dehydroepiandrosterone sulfate, estradiol, and testosterone. The levels of adrenocorticotropic, follicle-stimulating, and luteinizing hormones were high. Radiological and surgical investigations failed to show a gonad. She also had a large myelolipoma. Treatment was commenced with low-dose dexamethasone and conjugated estrogen. Her hypertension and hypokalemia were resolved. The myelolipoma was removed by laparoscopy due to pain and sensation of heaviness. Our review of literature revealed that a combination of this disorder with either agonadism or myelolipoma is very rare and that only 2 previous cases have been reported for each entity.
Indexed as
Identifiers
27853336PMC5106571What OpenQuestion holds
Registered trials
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