New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

doi:10.1007/s00109-005-0651-7

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Article

New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.

Journal of molecular medicine (Berlin, Germany) - 1 Jul 2005

Hackel Christine, Oliveira Luiz Eduardo Chimello, Ferraz Lucio Fabio Caldas, Tonini Maria Manuela Oliveira, Silva Daniela Nunes, Toralles Maria Betania, Stuchi-Perez Eliana Gabas, Guerra-Junior Gil

Abstract excerpt

Mutations of the steroid 5alpha-reductase type 2 (SRD5A2) gene in 46,XY subjects cause masculinization defects of varying degrees, due to reduced or impaired enzymatic activity. In this study, sequence abnormalities of the SRD5A2 gene were assessed by polymerase chain reaction with specific primers and automated sequencing analysis in DNA samples from 20 patients with suspected steroid 5alpha-reductase type 2...

Topics

3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Adolescent
Adult
Brazil
Child
Child, Preschool
Consanguinity
Disorders of Sex Development
Female
Founder Effect
Humans
Infant
Infant, Newborn

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mutation

Sequence Analysis, DNA

Source

Open in PubMed

Identifiers

PMID: 15770495
DOI: 10.1007/s00109-005-0651-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.