Abstract
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 5α-reductase activity. The diagnosis of 5α-reductase deficiency was confirmed by elevated urinary 5β/5α-steroid metabolite ratios and demonstration of defective 5α-reductase activity in cultured fibroblasts from the patient's scrotum and foreskin. Application of DHT cream to the patient's abdomen raised circulating levels of DHT to the adult male range. Two courses of DHT given nightly for 3 and 4 months resulted in phallic enlargement. Surgical release of the chordee and hypospadias repair have resulted in normal male appearance of the genitalia. This case illustrates the heterogeneity of the 5α-reductase deficiency phenotype.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 318-322 |
| Number of pages | 5 |
| Journal | Journal of Clinical Endocrinology and Metabolism |
| Volume | 71 |
| Issue number | 2 |
| State | Published - Aug 1990 |
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ASJC Scopus subject areas
- Biochemistry
- Endocrinology, Diabetes and Metabolism
Cite this
Variable expression of 5α-reductase deficiency : Presentation with male phenotype in a child of greek origin. / Carpenter, Thomas O.; Imperato-McGinley, Julianne; Boulware, Susan D.; Weiss, Robert M.; Shackleton, Cedric; Griffin III, Jim; Wilson, Jean D.
In: Journal of Clinical Endocrinology and Metabolism, Vol. 71, No. 2, 08.1990, p. 318-322.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Variable expression of 5α-reductase deficiency
T2 - Presentation with male phenotype in a child of greek origin
AU - Carpenter, Thomas O.
AU - Imperato-McGinley, Julianne
AU - Boulware, Susan D.
AU - Weiss, Robert M.
AU - Shackleton, Cedric
AU - Griffin III, Jim
AU - Wilson, Jean D.
PY - 1990/8
Y1 - 1990/8
N2 - 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 5α-reductase activity. The diagnosis of 5α-reductase deficiency was confirmed by elevated urinary 5β/5α-steroid metabolite ratios and demonstration of defective 5α-reductase activity in cultured fibroblasts from the patient's scrotum and foreskin. Application of DHT cream to the patient's abdomen raised circulating levels of DHT to the adult male range. Two courses of DHT given nightly for 3 and 4 months resulted in phallic enlargement. Surgical release of the chordee and hypospadias repair have resulted in normal male appearance of the genitalia. This case illustrates the heterogeneity of the 5α-reductase deficiency phenotype.
AB - 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 5α-reductase activity. The diagnosis of 5α-reductase deficiency was confirmed by elevated urinary 5β/5α-steroid metabolite ratios and demonstration of defective 5α-reductase activity in cultured fibroblasts from the patient's scrotum and foreskin. Application of DHT cream to the patient's abdomen raised circulating levels of DHT to the adult male range. Two courses of DHT given nightly for 3 and 4 months resulted in phallic enlargement. Surgical release of the chordee and hypospadias repair have resulted in normal male appearance of the genitalia. This case illustrates the heterogeneity of the 5α-reductase deficiency phenotype.
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UR - http://www.scopus.com/inward/citedby.url?scp=0025006476&partnerID=8YFLogxK
M3 - Article
C2 - 2143199
AN - SCOPUS:0025006476
VL - 71
SP - 318
EP - 322
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
SN - 0021-972X
IS - 2
ER -