ArticleJournal of the Endocrine Society2022
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Article in Journal of the Endocrine Society, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 2 of them syntheses that pooled it.
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Who cites it
17 citing papers in PubMed, 2 syntheses or guidelines pooled it, 18 citations in OpenAlex.
- 3β-Hydroxysteroid dehydrogenase type-2 deficiency: Our experience and gonadal function-focused systematic review.Endocrine · 2026Pooled it
- 17α-Hydroxylase/17,20-lyase Deficiency (17-OHD): A Meta-analysis of Reported Cases.The Journal of clinical endocrinology and metabolism · 2025Pooled it
- Modern Polycystic Ovary Syndrome (PCOS) Management: Intelligent Drug Delivery and Metabolic Reprogramming for Ovarian Restoration and Fertility Optimization.Biomolecules · 2026Review
- Uncontrolled hypertension in siblings: an unsuspected diagnosis.AJOG global reports · 2026Article
- Clinical and genetic characteristics of rare congenital adrenal hyperplasia: a retrospective analysis in a Chinese population.Frontiers in genetics · 2026Article
- 46,XY 17 alpha-hydroxylase/17,20 lyase deficiency with breast development: A case report and literature review.Endocrine journal · 2025Review
- 17α-hydroxylase deficiency with a novelTranslational pediatrics · 2025Article
- Cardiometabolic Aspects of Congenital Adrenal Hyperplasia.Endocrine reviews · 2025Review
- Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase DeficiencyJournal of clinical research in pediatric endocrinology · 2025Review
- Estrogen-secreting testicular tumors in 46,XY female patients with 17α-hydroxylase/17,20-lyase deficiency: two unusual case reports and a review of the literature.Frontiers in genetics · 2025Article
- LHCGR inactivating variants: single center experience and systematic review of phenotype-genotype of 46,XY and 46,XX patients.Endocrine connections · 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
- 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
- Management of a Girl With Delayed Puberty and Elevated Gonadotropins.Journal of the Endocrine Society · 2022Article
- Gonadal tumor risk in pediatric and adolescent phenotypic females with disorders of sex development and Y chromosomal constitution with different genetic etiologies.Frontiers in pediatrics · 2022Article
- New insights on hyperglycemia in 17-hydroxylase/17,20-lyase deficiency.Frontiers in endocrinology · 2022Article
Corrections and comments
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextThere are more than 100 pathogenic variants in
objectiveWe aimed to describe 46,XY patients with 17OHD from our center and review the literature.
methodsWe retrospectively analyzed genetically proven index cases of 17OHD from our 46,XY disorders of sex development cohort and reviewed similar cases from the literature (n = 150). Based on the phenotype, 17OHD probands were classified into combined severe deficiency (n = 128) and combined partial deficiency (n = 16). Additionally, patients with the apparent isolated 17,20-lyase deficiency (n = 7, from 6 families) were noted. Residual enzyme activities with the observed mutant enzymes were divided in 2 categories as < 1% and ≥ 1%, each for hydroxylase and lyase.
resultsWe present 4 index cases of 46,XY 17OHD with a complete spectrum of undervirilization and 2 novel variants in
conclusionWe report the first monocentric case series of Asian Indian 46,XY patients with 17OHD. We propose that a phenotype of severe undervirilization with milder cortisol deficiency may represent a distinct subtype of combined severe 17OHD with residual 17α-hydroxylase activity but severe 17,20-lyase deficiency (>1%/<1%), which needs further validation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.