Morphometry and histology of gonads from twelve children and adolescents with the androgen insensitivity (testicular feminization) syndrome.

Gonadal histology was investigated by means of stereology and Conventional microscopy in 12 patients, aged 2 months to 19 yr, with the androgen insensitivity syndrome (AIS). Eight patients had the incomplete variant of the syndrome and 4 patients had the complete form. Testicular tissue was removed as a prophylactic measure in all patients. In 6 patients less than 5 yr of age testicular histology was normal, except for slightly decreased mean tubular diameters, and, in 1 of the patients, abnormal morphology of the germ cells including a carcinoma-in-situ pattern. The number of germ cells was within the normal range in these 6 patients. In contrast, in older patients (greater than 7 yr of age), germ cells were absent or present only in small foci. In patients with the complete AIS the testicular histology also was immature after puberty, whereas some maturation and subsequent degeneration was found in adolescent patients with the incomplete form of the syndrome. In addition, 2 of these latter patients had a carcinoma-in-situ germ cell pattern. Although patients with the AIS have no reduction of the number of germ cells during the first years of life, this syndrome is associated with abnormal morphology of the germ cells, including patterns of carcinoma-in-situ and impaired pubertal maturation of the seminiferous tubules and the germ cells, in older patients.