Article
Clinical, biochemical, and genetic findings in a large pedigree of male and female patients with 5 alpha-reductase 2 deficiency.
The Journal of clinical endocrinology and metabolism - 1 Aug 1996
Hochberg Z, Chayen R, Reiss N, Falik Z, Makler A, Munichor M, Farkas A, Goldfarb H, Ohana N, Hiort O
Abstract excerpt
The present report describes a cluster of eight patients with male pseudohermaphroditism from a large pedigree with steroid 5 alpha-reductase 2 deficiency (5 alpha RD), who reside in Southern Lebanon. They were born with unambiguous female external genitalia and reared as girls until puberty, whe...
Topics
- Adolescent
- Adult
- Cholestenone 5 alpha-Reductase
- Disorders of Sex Development
- Female
- Humans
- Male
- Middle Aged
- Mutation
- Oxidoreductases
- Pedigree
- Sperm Count
- Steroids