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

Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.

Journal of endocrinological investigation - 1 Jan 2008

Faienza M F, Giordani L, Delvecchio M, Cavallo L

Abstract excerpt

The 17beta-hydroxysteroid dehydrogenases (17betaHSD) gene family comprises different enzymes involved in the biosynthesis of active steroid hormones. The 17betaHSD type 3 (17betaHSD3) isoenzyme catalyzes the reductive conversion of the inactive C19-steroid, Delta4-androstenedione (Delta4- A), into the biologically active androgen, testosterone (T), in the Leydig cells of the testis. It is encoded by the...

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 Amino Acid Sequence

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

Share to Disorders of Sex Development

Share to Endocrine System

Share to Gender Identity

Share to Molecular Diagnostic Techniques

Share to Mutation

Share to Testis

Source

Identifiers

PMID: 18296911
DOI: 10.1007/BF03345572

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

Clinical, endocrine, and molecular findings in 17beta-hydroxysteroid dehydrogenase type 3 deficiency.PMID 18296911Read ↗

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

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

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

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

17βHSD-3 enzyme deficiency due to novel mutations in the HSD17B3 gene diagnosed in a neonate.Semantic proximity Read ↗

Clinical management and genetic variation analysis of patients with 17β-hydroxysteroid dehydrogenase deficiency.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 ↗

17β-Hydroxysteroid dehydrogenase 3 deficiency: Three case reports and a systematic review.Semantic proximity Read ↗

Revisiting Classical 3β-hydroxysteroid Dehydrogenase 2 Deficiency: Lessons from 31 Pediatric CasesSemantic proximity Read ↗

Mutational Profile of 10 Afflicted Egyptian Families with 17-β-HSD-3 Deficiency.Semantic proximity Read ↗

Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency.Semantic proximity Read ↗

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