Diagnosis of Peripheral Androgen Insensitivity in A Male Infant Excretion Analysis

Abstract

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 3α17β-dihydroxy-5β-androstane (3β-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 μg/24 h, M ± SD; controls, n - 15: 100.5 ± 50.2). Normal basal- and hCG-induced excretion was noted for 3α,17 β-dihydroxy-5α-androstane (3α-diol) at age 1 and 3 years, respectively. Additionally, basal 3aL-diol excretion (n - 7) at age 3 years was 66.7 ±21.1 μg/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.

Key Words:

• Steroid excretion
• Androgen insensitivity
• Micropenis