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The patient, diagnosed as a case of testicular feminisation in infancy, was examined at the age of 15 years because of severe symptoms of virilising puberty with poor breast development. Plasma steroid analyses revealed a 10-fold elevated androstenedione concentration (A: 1562 ng/100 ml). Testosterone (T: 266 ng/100 ml) was in the male pubertal range. Thus the A/T-ratio was far above normal. The oestrone/oestradiol ratio was also elevated (Oe1/Oe2: 10.2/2.2 ng/100 ml). A, T, Oe1 and Oe2 could not be suppressed by dexamethasone, but reacted promptly to fluoxymesterone (A: 781 ng/100 ml). hCG caused a further increase of the A/T-radio (2220/246 ng/100 ml); ACTH did not alter the A-concentration. These findings together with simular investigations after gonadectomy suggest that the failure to convert A to T and Oe1 to Oe2 is essentially located in the testes. In vitro incubations of testicular tissue showed reduced 17-ketosteroid reductase activity in tissue slices and in the subcellular fractions microsomes and cytosole. This form of male pseudohermaphroditism can easily be detected already in infancy, if steroid analyses and stimulation tests are performed. In case of female sex assignment patients should be submitted to early orchidectomy in order to avoid virilisation in puberty.

In order to test the hypothesis that plasma 17beta-hydroxy-5alpha-androstan-3-one (DHT) levels might represent a parameter of androgenicity independent of testosterone (T) levels, the T/DHT ratio was determined at low and high T levels in both sexes. High T levels in males were obtained either by stimulation of endogenous T secretion, but im injection of either short or long-acting T esters and finally by oral administration of 200 mg of crystalline testosterone. In females high T levels were obtained either by im injection of long-acting T esters or by oral administration of 200 mg of T. It was observed that the T/DHT ratio was not a function of sex but a function of T levels, whether T had an endogenous or a exogenous origin. When, as in patients with porto-caval shunt or cirrhosis of the liver, the liver was bypassed, oral administration of T resulted in relatively higher DHT levels than expected from T levels: this suggests an extra-hepatic origin of plasma DHT and/or a decreased hepatic metabolism of DHT. In a patient with the testicular feminization syndrome the T/dht ratios both under basal conditions and after im injection of T propionate were similar to those observed in normal subjects.