Klinefelter syndrome with long-arm X-chromosome deletion.

Klinefelter syndrome (KS)was first described in 1942 byHarry F. Klinefelter in nine men with testicular abnormalities, failure to produce spermatozoa and gynaecomastia [1], being the first sexual chromosome abnormality to be described. In 1959, Jacobs and Strong found that this phenotypewas due to the presence of an extra X chromosome [2]. Klinefelter syndrome (KS) is an ananeuploidy that affects sexual chromosomes characterized by the presence of two X chromosomes and a Y chromosome in subjects with a male phenotype. It is themost common sexual chromosome abnormality,with an incidenceof 1 in 600malebirths, being themost frequent cause of genetic infertility inmales,with a frequency of 4% [3]. Clinically, patients are tall, with narrow shoulders,wide hips,weakmuscles, scarce bodyhair, small testes, gynaecomastia and infertility. Complementary tests revealed aspermatogenesis, reduced levels of serum testosterone, elevated levels of follicle-stimulating hormone (FSH) and luteinizing hormone (LH) and androgen deficiency (hypergonadotropic hypogonadism). It is associated with other comorbidities, including osteoporosis, varicose veins, thromboembolic disease, diabetes, chronic bronchitis, bronchiectasis, emphysema and neoplastic diseases. Phenotypic traits are subtle and generally remain unnoticed during childhood and adolescence. Diagnosis is usually established during puberty due to poor development of secondary sexual characters, or even in adulthood, upon investigation of infertility. We report the case of a 26-year-old man referred to the Unit of Urology due to the presence of phimosis. Reported pubarche occurred at 12 years, with deepening of voice and growth of facial hair at 18, although it is sparse and needs shaving only once weekly. He experiences erections and sexual desire, and does not show other symptoms. On physical examination, the patient has a height of 177 cm, a weight of 76.6 kg and an arm span of 180 cm, with mild phimosis, hypotrophic testes and mild gynaecomastia. Seminogram reveals a volume of sperm of 3.2 mL, translucent, with total liquefaction at 1 h and normal viscosity, with a pH of 8.5 azoospermia. Scrotal ultrasound demonstrates a reduction of the size of the testes, diffuse hypogenicity and a hyperechogenic point related to microcalcifications, without intraparenchymal lesions. Epididymes with preserved morphology, with an 8-mm cyst in the head of the left epididymis. Hydrocele or varicocele not noted. Findings related to the hormonal profile of the patient are shown in Table 1.