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

5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.

Journal of endocrinological investigation - 1 Aug 2020

Cocchetti C, Ristori J, Mazzoli F, Prunas A, Bertelloni S, Magini A, Vignozzi L, Maggi M, Fisher A D

Abstract excerpt

PURPOSE: Gender assignment represents one of the most controversial aspects of the clinical management of individuals with Differences of Sex Development, including 5α-Reductase-2 deficiency (SRD5A2). Given the predominant female appearance of external genitalia in individuals with SRD5A2 deficiency, most of them were assigned to the female sex at birth. However, in the last years the high rate of gender role...

Read the complete abstract on PubMed

Topics

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

Share to 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Share to Disorders of Sex Development

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

Share to Membrane Proteins

Share to Mutation

Share to Prognosis

Share to Sex Differentiation

Share to Young Adult

Source

Identifiers

PMID: 32036582
DOI: 10.1007/s40618-020-01193-w

Genes

SRD5A2

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

5α-Reductase-2 deficiency: is gender assignment recommended in infancy? Two case-reports and review of the literature.PMID 32036582Read ↗

Choice of Gender in 5α-Reductase Deficiency: A Moving TargetSemantic proximity Read ↗

Evaluation and management of children and adolescents with gender identification and transgender disorders.Semantic proximity Read ↗

Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.Semantic proximity Read ↗

Male assignment in 5α-reductase type 2 deficiency with female external genitalia.Semantic proximity Read ↗

5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.Semantic proximity Read ↗

Practical approach to steroid 5alpha-reductase type 2 deficiency.Semantic proximity Read ↗

Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.Semantic proximity Read ↗

[Sex differentiation disorders from the andrologic viewpoint].Semantic proximity Read ↗

5-α-Reductase type 2 deficiency: is there a genotype-phenotype correlation? A review.Semantic proximity Read ↗

Gender Dysphoria: A Review Investigating the Relationship Between Genetic Influences and Brain DevelopmentSemantic proximity Read ↗

Gender identity and role in a pedigree of Arabs with intersex due to 5 alpha reductase-2 deficiency.Semantic proximity Read ↗

Divergent gender identity in three siblings with 46XX karyotype and severely virilizing congenital adrenal hyperplasia caused by a novel CYP11B1 mutation.Semantic proximity Read ↗

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