Article
Variable expression of 5 alpha-reductase deficiency: presentation with male phenotype in a child of Greek origin.
The Journal of clinical endocrinology and metabolism - 1 Aug 1990
Carpenter T O, Imperato-McGinley J, Boulware S D, Weiss R M, Shackleton C, Griffin J E, Wilson J D
Abstract excerpt
A male infant with perineal hypospadias and a small phallus bound in chordee is described. Biochemical investigation at age 9 months after hCG stimulation revealed a testosterone to dihydrotestosterone (DHT) ratio of 40, a markedly elevated value suggestive of deficient steroid 5 alpha-reductase...
Topics
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- Adult
- Androstenedione
- Biopsy
- Chorionic Gonadotropin
- Dehydroepiandrosterone
- Dihydrotestosterone
- Female
- Fibroblasts
- Follicle Stimulating Hormone
- Greece
- Humans
- Hypospadias
- Infant
- Karyotyping
- Luteinizing Hormone
- Male
- Phenotype