Diagnosis of peripheral androgen insensitivity in a male infant excretion analysis.
The hypothesis of peripheral androgen insensitivity (AIS) was examined in a boy with congenital growth hormone deficiency associated with micropenis and cryptorchidism by steroid excretion analyses compared with dihydrotestosterone (DHT) receptor analyses of foreskin biopsy homogenate. Urinary T metabolite 3 alpha,17 beta-dihydroxy-5 beta-androstane (3 beta-diol) was below the limit of detection (capillary gas chromatography) at age 1 year, but on several occasions (n = 7) normal basal values were found at age 3 years (patient: 78.9 +/- 25.4 micrograms/24 h, M +/- SD; controls, n = 15: 100.5 +/- 50.2). Normal basal- and hCG-induced excretion was noted for 3 alpha,17 beta-dihydroxy-5 alpha-androstane (3 alpha-diol) at age 1 and 3 years, respectively. Additionally, basal 3 alpha-diol excretion (n = 7) at age 3 years was 66.7 +/- 21.1 micrograms/24 h, M +/- SD; controls (n = 15) 75.8 +/- 50.4. Analysis of urinary androgens might be an alternative, noninvasive procedure for the diagnosis of peripheral AIS.
Lischka
A
A
Department of Pediatrics, University of Vienna, Austria.
Herkner
K
K
Pollak
A
A
D000728:Androgens / Q000097:blood / Q000652:urine*; D002849:Chromatography, Gas; D003456:Cryptorchidism / Q000097:blood / Q000652:urine*; D013196:Dihydrotestosterone; D006801:Humans; D007223:Infant; D008297:Male; D011944:Receptors, Androgen / Q000032:analysis
D000728:Androgens; D011944:Receptors, Androgen; D013196:Dihydrotestosterone