A case of the rare variant of Klinefelter syndrome 47,XY,i(X)(q10)
The 33-year-old patient, who had been born to a 25-year-old woman and her 30-year-old husband, was referred to a male infertility clinic due to azoospermia. The patient generally looked healthy with a normal male appearance. His height was 160 cm, body weight 53 kg, and body mass index 20.7 kg/m2. There was a normal male pattern of body hair, and he had no gynecomastia. No mental retardation was observed. Examination of the external genitalia revealed both small testes to be normally positioned, but on palpation they had a soft consistency and a volume of 5 mL each. There were no abnormalities of the epididymis or the vas deferens and no signs of varicocele.\nThe family history of infertility was negative, and the fertility tests for his younger brother were normal. From two semen analyses by centrifugation, he was diagnosed with complete azoospermia. Endocrinologic investigation revealed elevated FSH and LH levels with FSH 69.04 mIU/mL (normal range, 1.27-19.26 mIU/mL), LH 22.17 mIU/mL (normal range, 1.24-8.62 mIU/mL), prolactin 26.48 mIU/mL (normal range, 2.64-13.13 mIU/mL), and testosterone 2.31 mIU/mL (normal range, 2.80-8.00 mIU/mL).\nMetaphase spreads from the lymphocytes were prepared and trypsin-Giemsa banded according to standard techniques. His karyotype revealed 47,X,i(Xq),Y on 50 metaphase chromosomes with no mosaicism, and all of the isochromosomes were apparently monocentric (). The microdissection for testicular sperm extraction was negative, and the histology of a testes biopsy revealed severe tubular atrophy showing only a few atrophic seminiferous tubules showing Sertoli cells only with Leydig cell hyperplasia (). Genetic counseling about the disease was performed, and the possible usage of donor sperm was discussed for the fertility problem. Androgen replacement therapy was also recommended to avoid symptoms and sequelae of androgen deficiency.