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

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.

European journal of endocrinology - 1 Nov 2015

Burckhardt Marie-Anne, Udhane Sameer S, Marti Nesa, Schnyder Isabelle, Tapia Coya, Nielsen John E, Mullis Primus E, Rajpert-De Meyts Ewa, Flück Christa E

Abstract excerpt

CONTEXT: 3β-hydroxysteroid dehydrogenase deficiency (3βHSD) is a rare disorder of sexual development and steroidogenesis. There are two isozymes of 3βHSD, HSD3B1 and HSD3B2. Human mutations are known for the HSD3B2 gene which is expressed in the gonads and the adrenals. Little is known about testis histology, fertility and malignancy risk. OBJECTIVE: To describe the molecular genetics, the steroid biochemistry,...

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Hormonal Regulation and Hypertension

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

Share to Infant, Newborn

Share to Infertility, Male

Share to Mutation

Share to Puberty

Share to Sexual Differentiation and Disorders

Share to Testis

Source

Identifiers

PMID: 26290012
DOI: 10.1530/EJE-15-0599

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

Human 3β-hydroxysteroid dehydrogenase deficiency seems to affect fertility but may not harbor a tumor risk: lesson from an experiment of nature.PMID 26290012Read ↗

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

3β-Hydroxysteroid dehydrogenase type-2 deficiency: Our experience and gonadal function-focused systematic review.Semantic proximity Read ↗

Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone.Semantic proximity Read ↗

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

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

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

Clinical, endocrine, and molecular findings in 17beta-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 ↗

Dynamics of HSD17B3 expression in human fetal testis: implications for the role of Sertoli cells in fetal testosterone biosynthesisSemantic 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 ↗

A Novel Homozygous Q334X Mutation in the <b><i>HSD3B2</i></b> Gene Causing Classic 3β-Hydroxysteroid Dehydrogenase Deficiency: An Unexpected Diagnosis after a Positive Newborn Screen for 21-Hydroxylase DeficiencySemantic proximity Read ↗

Severe Undervirilisation in a 46,XY Case Due to a Novel Mutation in HSD17B3 Gene.Semantic proximity Read ↗

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