15N nitrogen-balance studies in patients with testicular feminization, their relatives, and in normal subjects

Fourteen subjects (4 with testicular feminization, 2 mothers, 1 aunt and 1 father of these patients, 2 normal women, 2 normal men and 2 normal prepubertal boys) were given 0.1 to 0.2 g/kg of 50 percent 15N-labeled NH4Cl before and after 6 daily injections of testosterone (T) 15 mg/m2). In 24-hour urine specimens collected on the test days, 15N was calculated from total N (Kjeldahl) and the percentage of 15N (mass spectrometry or 15N-analyzer Isocommerz). In all normal subjects, urinary 15N-balance was influenced positively by T (+31.3 +- 8.4 percent), in prepubertal boys more (+43 to +66 percent) than in women (+20 to +30 percent) and men (+6 to +23). In testicular feminization, 15N-balance not only failed to become more positive, but was even reduced (-24.7 +- 17.6 percent). The father of a patient had only a slight response (+7 percent) as one of the normal males, probably because of higher endogenous T-levels in adult males. One mother and the aunt had no response (-7.4 to + 1.5 percent). In the mother, the balance became slightly positive (+10 percent) on oral contraceptives. The other mother, who was on estrogen treatment prior to and during the test, had a positive but insufficient change of balance (+17 percent). It is concluded that this test allows detection of patients with testicular feminization and possibly also healthy female carriers. In these cases, estrogen treatment appears to positively influence the response to T