ArticleEndocrine2024
17α Hydroxylase/17,20 lyase deficiency: clinical features and genetic insights from a large Turkey cohort.
Article in Endocrine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed.
- Multi-biomarker models based on the androgen backdoor pathway for diagnosing 17α-hydroxylase/17,20-lyase deficiency.Endocrine · 2026Article
- Molecular modeling and clinical characterization of a CYP17A1 variant (p.Asp298Asn) causing 17α-hydroxylase/17,20-lyase deficiency in two siblings.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2026Article
- Familial isolated 17,20-lyase deficiency in three siblings caused by a CYP17A1 mutation.Endocrinology, diabetes & metabolism case reports · 2026Article
- Extended genotype-phenotype spectrum of 17α-hydroxylase/17,20-lyase deficiency: a nine-case series featuring a novel mutation, suspected TART-like lesions, and multisystem involvement.Frontiers in endocrinology · 2026Article
- Growth Without GH: A Case Series and Literature Review.Journal of clinical medicine · 2025Review
- 46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.Endocrine journal · 2025Review
- 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
- Unraveling the genetic and pathophysiological mechanisms underlying disorders of sex development.Intractable & rare diseases research · 2025Review
- Congenital Adrenal Hyperplasia and Adrenal Insufficiency in Children: An Evidence-based Review with Good Practice Points by Adrenal Working Group of The Turkish Society for Pediatric Endocrinology and Diabetes.Journal of clinical research in pediatric endocrinology · 2025Article
- Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase DeficiencyJournal of clinical research in pediatric endocrinology · 2025Review
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Authors and funding
40 authors.
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Abstract
purpose17α Hydroxylase/17,20 lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, typically diagnosed in late adolescence with symptoms of pubertal delay and hypertension. This study aimed to determine the clinical and laboratory characteristics of 17OHD cases and gather data on disease management.
methodsData from 97 nationwide cases were analyzed using the CEDD-NET web system. Diagnostic, follow-up findings, and final heights of patients were evaluated.
resultsMean age at admission was 13.54 ± 4.71 years, with delayed puberty as the most common complaint. Hypertension was detected in 65% at presentation; hypokalemia was present in 34%. Genetic analysis revealed Exon 1-6 homozygous deletion as the most frequent mutation, identified in 42 cases. Hydrocortisone replacement was universal; pubertal replacement was administered to 66 cases. Antihypertensive treatment was required in 57 (90%) patients. Thirty-seven cases reached final height, with an average SD of 0.015 in 46,XX and -1.43 in 46,XY. Thelarche and pubarche did not develop properly in some cases despite estradiol treatment.
conclusionThis study represents the largest cohort of pediatric cases of 17-hydroxylase deficiency (17OHD) documented in the literature. Hypertension and hypokalemia can serve as guiding indicators for early diagnosis.The final height is typically considered to be normal. The relationship between genotype and phenotype remains elusive. The initial genetic test for exon 1-6 deletions may be MLPA in our region.
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