Sex Chromosome Abnormality in Chronic Renal Failure

Isoji Sasagawa, MD, Department of Urology, School of Medicine, Yamagata University, 2-2-2 Iidanishi, Yamagata-shi, Yamagata 990-23 (Japan) Dear Sir, Sex chromosome abnormality is one of the representative causes of male infertility. Previously, various types of the abnormality have been reported [1, 2]. Patients with the abnormality usually show gonadal dysfunction [3]. Similar dysfunction was often found in male patients with chronic renal failure [4, 5]. However, little attention has been paid to sex chromosome abnormality in men with end-stage renal disease. Herein, we report a case of Klinefelter’s syndrome with chronic renal failure undergoing hemodialysis. A 47-year-old Japanese man, on maintenance hemodialysis for 5 years, was referred to our hospital because of his infertility. He was a well-developed male weighing 68 kg and 184 cm in height. A female-type distribution of the public hair was noted. Neither malformations nor gynecomastia were seen. The penis, epididymides and spermatic cords were normal, but the prostate was barely palpable. His testes were only about 3 ml in volume with an orchidometer. Repeated sper-matograms revealed the absence of spermatozoa. A hemogram disclosed leukocytes of 8,400/mm3 (normal, 4,000-9,000), erythro-cytes 231 × lOVmm3 (normal, 430-570 × 104), hemoglobin 6.8 g/dl (normal, 14.0-18.0), hem-atocrit 21% (normal, 40-54) and platelet count 375,000/mm3 (normal, 130,000-340,000). Serum sodium was 138 mEq/1 (normal, 135-145), potassium 5.1 mEq/1 (normal, 3.2-4.5), chloride 94 mEq/1 (normal, 96-110), calcium 5.7 mg/dl (normal, 8.8-10.2) and phosphorus 5.3 mg/dl (normal, 2.94.7). Blood urea nitrogen was 81 mg/dl (normal, 9-25), serum creatinine 14.3 mg/dl (normal, 0.5-1.5) and uric acid 7.6 mg/dl (normal, 2.0-7.6). Liver function test and immunologi-cal examinations were all within the normal range. Plasma-luteinizing hormone (LH), follicle-stimulating hormone (FSH) and testosterone were 18.8 mlU/ml (normal, 1.8-5.2), 51.0 mlU/ml (normal, 2.9-8.2) and 0.3 ng/ml (normal, 2.8-8.2), respectively. Chromosome analysis of peripheral lymphocytes with 26 cells showed 47, XXY (96.2%) and 46, XY (3.8%) mosaicism (fig. 1, 2). The patient was treated with intramuscular injection of 250 mg testosterone enanthate every 3 weeks. Twelve weeks after the initiation of testosterone replacement therapy, LH, FSH and testosterone were 22.5 mlU/ml, 45.3 mlU/ml and 1.1 ng/ml, respectively.