Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.

Annales d'endocrinologie - 1 Apr 2023

Garcia Aubin, Legendre Marie, Chantot-Bastaraud Sandra, Siffroi Jean-Pierre, Christin-Maitre Sophie

Abstract excerpt

17-ß Hydroxysteroid dehydrogenase type 3 (17β-HSD3) is an enzyme transforming Delta 4 androstenedione into testosterone. It is involved in the early development of the male genital tract. In this case report, we describe a 46,XY Difference of Sexual Development (DSD) individual with a female phenotype, primary amenorrhea, facial dysmorphia and mental retardation. Gene sequencing using a panel of genes involved in...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to 17-Hydroxysteroid Dehydrogenases
Share to Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Mutation

Share to Testosterone

Source

Identifiers

PMID: 35065919
DOI: 10.1016/j.ando.2022.01.003

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Unraveling a case of 46,XY DSD due to 17ß-Hydroxysteroid Dehydrogenase type 3 mutations at the age of 49.PMID 35065919Read ↗

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.Semantic proximity Read ↗

Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence.Semantic proximity Read ↗

Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients.Semantic proximity Read ↗

46,XY Sex Development Defect due to a Novel Homozygous (Splice Site) c.673_1G>C Variation in the HSD17B3 Gene: Case ReportSemantic proximity Read ↗

The 17β-hydroxysteroid dehydrogenase type 3 deficiency: a case report of an 18-year patient and review of the literature.Semantic proximity Read ↗

Clinical and molecular spectrum of patients with 17β-hydroxysteroid dehydrogenase type 3 (17-β-HSD3) deficiency.Semantic proximity Read ↗

The novel founder homozygous V225M mutation in the HSD17B3 gene causes aberrant splicing and XY-DSD.Semantic proximity Read ↗

Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.Semantic proximity Read ↗

46,XY DSD due to 17β-HSD3 deficiency and 5α-reductase type 2 deficiency.Semantic proximity Read ↗

A novel missense mutation in HSD17B3 gene in a 46, XY adolescent presenting with primary amenorrhea and virilization at puberty.Semantic proximity Read ↗

Novel mutations of HSD17B3 in three Chinese patients with 46,XY Disorders of Sex Development.Semantic proximity Read ↗

Comprehensive molecular analysis identifies eight novel variants in XY females with disorders of sex development.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.