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.