Investigation of Peripheral Androgen Resistance in Genital Hypoplasia associated with Congenital Growth Hormone Deficiency

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Abstract
In a male infant with congenital growth hormone deficiency and genital hypoplasia (micropenis, cryptorchidism and small scrotum) androgen receptors, tissue specific 5.alpha. reductase and steroid excretion pattern were determined in order to test the hypothesis of peripheral androgen resistance. A reduced number of cytosolic binding sites (Nmax) was found for the T and DHT receptor in patients foreskin compared to controls (n = 9) of similar age. The specific affinity (Kd) of the cytosolic receptor, however, was normal. Tissue specific 5.alpha. reductase determination revealed a Vmax of 3.3 pmol/mg/h (controls 15.8 .+-. 1.4). Analysis of urinary steroid excretion pattern revealed decreased levels of T metabolites, indicating impaired T metabolism. We postulate, that genital hypoplasia in patients with congenital GH deficiency is associated with impaired target organ responsiveness to androgen hormones caused by abnormalities within the pathway of intracellular reactions of T utilization.