ReviewInternational journal of molecular sciences2022
Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different
Review in International journal of molecular sciences, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 23 citations in OpenAlex.
- Serum androgen profile of elite athletes.The Journal of clinical endocrinology and metabolism · 2026Article
- Clinical management and genetic variation analysis of patients with 17β-hydroxysteroid dehydrogenase deficiency.The Journal of international medical research · 2026Article
- The non-monotonic dose-effect of resveratrol on testicular steroidogenesis in male arctic foxes (Vulpes lagopus): Mechanisms revealed by integrated transcriptomic and metabolomic analyses.Veterinary and animal science · 2026Article
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.The American journal of case reports · 2025Article
- Review
- Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis.Journal of clinical & translational endocrinology · 2025Article
- Functional Analysis of HSD17B3-Deficient Male Mice Reveals Roles for HSD17B7 and HSD17B12 in Testosterone Biosynthesis.Endocrinology · 2025Article
- Growth hormone deficiency in three siblings homozygous for a rareFrontiers in endocrinology · 2025Article
- Guidance for shared decision-making regarding orchiectomy in individuals with differences of sex development due to 17-β-hydroxysteroid dehydrogenase type 3 deficiency.Frontiers in pediatrics · 2025Review
- Compensatory mechanisms that maintain androgen production in mice lacking key androgen biosynthetic enzymes.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024Article
- [Clinical, hormonal and molecular genetic characteristics of patients with 46,XY disorders of sex development associated with variants in theProblemy endokrinologii · 2024Article
- The mitochondrial protease PARL is required for spermatogenesis.Communications biology · 2024Article
- Evaluation of 3β-hydroxysteroid dehydrogenase activity using progesterone and androgen receptors-mediated transactivation.Frontiers in endocrinology · 2024Article
- Four novel mutations identification in 17 beta-hydroxysteroid dehydrogenase-3 deficiency and our clinical experience: possible benefits of early treatment.Frontiers in endocrinology · 2023Article
- New Insights into Testosterone Biosynthesis: Novel Observations from HSD17B3 Deficient Mice.International journal of molecular sciences · 2022Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
The 17-beta-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) enzyme converts androstenedione to testosterone and is encoded by the HSD17B3 gene. Homozygous or compound heterozygous HSD17B3 mutations block the synthesis of testosterone in the fetal testis, resulting in a Disorder of Sex Development (DSD). We describe a child raised as a female in whom the discovery of testes in the inguinal canals led to a genetic study by whole exome sequencing (WES) and to the identification of a compound heterozygous mutation of the HSD17B3 gene (c.608C>T, p.Ala203Val, and c.645A>T, p.Glu215Asp). Furthermore, we review all HSD17B3 mutations published so far in cases of 17-β-HSD3 deficiency. A total of 70 different HSD17B3 mutations have so far been reported in 239 patients from 187 families. A total of 118 families had homozygous mutations, 63 had compound heterozygous mutations and six had undetermined genotypes. Mutations occurred in all 11 exons and were missense (55%), splice-site (29%), small deletions and insertions (7%), nonsense (5%), and multiple exon deletions and duplications (2%). Several mutations were recurrent and missense mutations at codon 80 and the splice-site mutation c.277+4A>T each represented 17% of all mutated alleles. These findings may be useful to those involved in the clinical management and genetic diagnosis of this disorder.
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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.