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

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.

European journal of endocrinology - 1 Sept 1998

Bilbao J R, Loridan L, Audí L, Gonzalo E, Castaño L

Abstract excerpt

OBJECTIVE: Deficit of the testosterone converting enzyme 17-beta-hydroxysteroid dehydrogenase (17beta-HSD) has been shown to be responsible for male pseudohermaphroditism (MPH). We analysed the gene encoding 17beta-HSD type 3 (17beta-HSD3) in a patient with MPH. METHODS: We studied a 46, XY new-born diagnosed as having MPH. The child also had other congenital disorders, including a giant omphalocele and Fallot's...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Electrophoresis, Agar Gel
Share to Exons

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

Share to Infant, Newborn

Share to Mutation

Share to Phenotype

Share to Polymerase Chain Reaction

Share to RNA, Messenger

Source

Identifiers

PMID: 9758445
DOI: 10.1530/eje.0.1390330

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

A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism.PMID 9758445Read ↗

The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.Semantic proximity Read ↗

Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3.Semantic proximity Read ↗

17beta-hydroxysteroid dehydrogenase 3 deficiency in a male pseudohermaphrodite.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 ↗

Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3).Semantic proximity Read ↗

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

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.Semantic proximity Read ↗

Unmasking a rare variant: 17β-HSD3 deficiency in a male infant with disorders of sex development.Semantic proximity Read ↗

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

Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesisSemantic proximity Read ↗

Homozygous mutation within the conserved Ala-Phe-Asn-Glu-Thr motif of exon 7 of the LH receptor causes male pseudohermaphroditism.Semantic proximity Read ↗

A novel nonsense mutation in exon 1 of HSD17B3 gene in an Egyptian 46,XY adult female presenting with primary amenorrhea.Semantic proximity Read ↗

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