XX/XXY Klinefelter症候群の1例

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A case of XX/XXY Klinefelter syndromew as reported. The patient was 33 years old male, whose high t , weight and arm span were 172c m, 68 k g and 184 cm, respectively, and was the first son of the parents, both of them were 20 years old at his birth. One sibling died soon after birth. Physical examination revealed almost a bsent beard, sparse hircus, feminized breast, perfect male-type of genitalia, sparse and female-type pubisure, almost normal penis and bilateral small testicles, being 1 .0x2.0x 1 .0 c m sized for the right and 1.0x 1.5 x 0 .9c m for the left. Histologically the testicle showed atrophy of seminiferous tubules with hyalinizaition of the canaliculi but without interstitial cell proliferation. No spermatogenesis was observed at all. Examination of seminal fluid was not done due to unsucceeded collection. Urinary 17-KS excretion was 6.1 . 7.85m g/day and its fractions were 2.7m g/day for androsteronea nd 2.48m g/day for etiocholanolone. Urinary gonadotropin excretion and estrogen excretion were over 48 units per day and 8.0f ig per day, respectively. Thyroid function was within normal range. The nuclear sex showed 34 % of chromatin rate (single bodies) for bucca l mucosal cells. Chromosomea nalysis by means of culture of peripheral blood lymphocytesr evealed two kinds of 46 chromosomesa nd of 47 chromosomes. The genotypeo f the formerw as XX and of the later was XXY, making XX/XXY mosaicism.
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