ArticleJournal of clinical research in pediatric endocrinology2018
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 Mutations
Article in Journal of clinical research in pediatric endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 37 citations in OpenAlex.
- Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.Journal of endocrinological investigation · 2026Review
- Delayed Bone Maturation and Extended Growth Phase as Distinctive Features of 17α-Hydroxylase/17,20-Lyase Deficiency: A Retro-Prospective Study of a Large Patient Cohort.Clinical endocrinology · 2025Article
- Zika virus disrupts steroidogenesis and impairs spermatogenesis by stalling the translation of CYP17A1 mRNA.Nature communications · 2025Article
- Two families, two pathways: a case series of 46, XY DSD with 17α-hydroxylase deficiency and isolated 17,20-lyase deficiency due to novelJournal of pediatric endocrinology & metabolism : JPEM · 2025Article
- Clinical and Genetic Analyses of Two Unrelated 46,XX Girls with Combined 17α-hydroxylase/17,20-lyase Deficiency from ChinaJournal of clinical research in pediatric endocrinology · 2025Article
- 17α-hydroxylase/17,20-lyase Deficiency Diagnosed at 45 Years of Age with Hyperaldosteronism.Internal medicine (Tokyo, Japan) · 2024Article
- 17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.Endocrine · 2024Article
- Seminoma in a 46, XY patient with 17α-hydroxylase deficiency.IJU case reports · 2024Article
- Monogenic Hypertension Linked to the Renin-Angiotensin-Aldosterone System.Anatolian journal of cardiology · 2024Article
- A Case Report of 17α-Hydroxylase Deficiency in Two Saudi Siblings With Different Karyotyping.Cureus · 2024Article
- 17 alpha-hydroxylase deficiency: A case report of young Chinese woman with a rare gene mutation.Clinical case reports · 2022Article
- Monogenic forms of low-renin hypertension: clinical and molecular insights.Pediatric nephrology (Berlin, Germany) · 2022Article
- A rare cause of delayed puberty and primary amenorrhea: 17α-hydroxylase enzyme deficiency.Endocrine · 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
- Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants inSisli Etfal Hastanesi tip bulteni · 2022Article
- The broad phenotypic spectrum of 17α-hydroxylase/17,20-lyase (CYP17A1) deficiency: a case series.European journal of endocrinology · 2021Article
- Incidental diagnosis of 17 alpha-hydroxylase deficiency: a case report.Oxford medical case reports · 2020Article
- Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.Frontiers in pediatrics · 2020Review
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Authors and funding
14 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Objective: 17α-hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia (CAH), characterized by hypertension and varying degrees of ambiguous genitalia and delayed puberty. The disease is associated with bi-allelic mutations in the Methods: We evaluated six patients with 17OHD from five families at presentation and at follow up. Standard deviation score of all auxological measurements was calculated according to national data and karyotype status. Results: The mean (±standard deviation) age of patients at presentation and follow-up time was 14.6±4.2 and 5.0±2.7 years respectively. Five patients were referred to us because of delayed puberty and primary amenorrhea and four for hypertension. One novel single nucleotide insertion leading to frame shift and another novel variant occurring at an ultra rare position, leading to a missense change, are reported, both of which caused 17OHD deficiency. Steroid replacement was started. The three patients with 46,XY karyotype who were raised as females underwent gonadectomy. Osteoporosis was detected in five patients. Four patients needed antihypertensive treatment. Improvement in osteoporosis was noted with gonadal steroid replacement and supportive therapy. Conclusion: 17OHD, a rare cause of CAH, should be kept in mind in patients with pubertal delay and/or hypertension. Patients with 46,XY who are raised as females require gonadectomy. Due to late diagnosis, psychological problems, gender selection, hypertension and osteoporosis are important health problems affecting a high proportion of these patients.
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