We described our case to show that different genetic disorders can accompany Klinefelter syndrome.
An 18-year-old male patient referred to our clinic with complaints of aggressive behavior, learning difficulties, inability to gain weight, tall stature, lack of facial hair, and erectile dysfunction. He has been using valproic acid for epilepsy. On physical examination, the height was 187 cm, body weight 73.4 kg, BMI 21 kg/m2, arm span 192 cm, upper body 91 cm, lower body 96 cm, and ratio of pubis-vertex/pubis-floor was <1. Vital signs were normal, but he had slight mental retardation. Testes were small and in the scrotum; penis length was 2.5cm. No beard was present; axillary and pubic hairs were scarce. Gynecomastia was absent. Systemic examination was normal except for midsystolic murmur. Height of mother and father were 162 and 175 cm, respectively. With these clinical findings, pre-diagnosis of hypogonadism was established and workup was performed.
Blood count and biochemical analysis were normal; follicle-stimulating hormone was measured as 55.95 mIU/mL, luteinizing hormone 8.64 mIU/mL, total testosterone 2.42 ng/mL, and IGF-1 436 ng/mL. Scrotal sonography showed small right (15*10 mm) and left (15*15) testes. Karyotype analysis demonstrated an extra X chromosome (47,XXY) and ins(6;7)(q13:p22). By sequence analysis of exon 1 region of androgen receptor, we detected 22 CAG repeat (normally, 12-30). We diagnosed the patient as having Klinefelter syndrome. Echocardiography performed for chest pain revealed mitral valve prolapse. The patient was informed about genetic counselling and fertility. Testosterone was given for treatment of secondary sexual characteristics.
To our knowledge, our case is the first Klinefelter patient having ins(6;7)(q13:p22); however, its clinical implication is not precise yet.