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

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

Journal of pediatric endocrinology & metabolism : JPEM - 26 Mar 2026

Sridhar Subbiah, Muthu Aravind Kumar, Palaniappan Sreenivasan, Nandini Kuppusamy, Chandrasekaran Aravindan, Kalavathy Rani

Abstract excerpt

OBJECTIVES: 17β-Hydroxysteroid dehydrogenase 3 (17β-HSD3) deficiency is a rare 46XY disorder of sex development (DSD) of androgen biosynthesis. We aimed to describe the complexities in diagnosis, gender assignment, and the timing of irreversible surgical interventions in 17β-HSD3 deficiency. CASE PRESENTATION: We described three genetically confirmed cases of 46XY DSD due to 17β-HSD3 deficiency. All of them had...

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 Adolescent

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Disorder of Sex Development, 46,XY

Share to Gynecomastia

Share to Infant

Share to Prognosis

Source

Identifiers

PMID: 41580999
DOI: 10.1515/jpem-2025-0549

Genes

HSD17B3

Variants

Provenance

PubMed metadata and Literature Corpus relationships.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rare phenotypic spectrum of 17β-hydroxysteroid dehydrogenase 3 deficiency: case series from infancy to adolescence.PMID 41580999Read ↗

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 ↗

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

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

17β hydroxysteroid dehydrogenase 3 deficiency in 46,XY disorders of sex development: Our experience and a gender role-focused systematic review.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 ↗

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

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

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