A CLINICAL AND CYTOGENETICAL STUDY OF THREE PATIENTS WITH MALE PHENOTYPE AND APPARENT XX SEX CHROMOSOME CONSTITUTION

Abstract

Three male patients with testicular dysgenesis are described. In all 3 patients testicular histology showed advanced tubular sclerosis and Leydig cell hyperplasia. Two were of short stature and none had gyn-ecomastia. They were all euthyroid with normal PBI [Protein bound iodine] but 2 of them showed decreased thyroid uptake of I131 and a decreased TSH [Thyroid stimulating hormone] reserve. In all 3 cases cells from several tissues had 46 chromosomes and an XX sex chromosome constitution. In one mosaicism was indicated by the presence of a very small proportion of cells with 47 chromosomes. Some of these cells seemed to contain 3 X chromosomes whereas the others had 2 X chromosomes and possibly a Y. No evidence of mosaicism was found in the other 2. There were no signs of structural chromosme abnormalities.