An 18-year-old male came to medical attention for complaints of non-healing ulcers on right medial aspect of lower leg and left medial malleolus of two years duration. His mother had noticed that he had put on weight particularly around breasts, hips, and thighs for last three years.
On examination his height was 196 cm and weight 106 kg. The upper segment to lower segment ratio was 0.82 (mean 0.92 in white adults, 0.85 in black adults), and arm span 207 cm (normal <5cm more than height). He had eunuchoid body habitus with truncal obesity and bilateral gynaecomastia He had no secondary sexual hair on face, pubic, or axillary hair. His testes were firm with a testicular volume of 3ml (normal adult 12-25 ml), and stretched penile length 4cm (mean in Asians 10.6 cm).
Multiple ulcers were present on medial aspect of right leg and lateral aspect of left leg varying in size from 1 to 2.5-cm with sharp edge and healthy granulation tissue at base. The surrounding skin was erythematous and bilateral pedal edema was present. There were no varicose veins or thrombophlebitis. Capillary filling of toes was delayed. Rest of the examination was normal.
Laboratory tests revealed serum testosterone - 6.5 mmol/L (normal 12-32 mmol/L), luteinizing hormone 56 U/L (normal 6 to 32 U/L), and follicle stimulating hormone 38 U/L (normal 5 to 27 U/L). A haemogram, urinalysis, serum total proteins, albumin, creatinine, electrolytes and liver function tests were normal. Doppler ultrasound revealed evidences of bilateral deep venous insufficiency of calf veins. Chromosome karyotype was 47 XXY. A biopsy taken from one of the ulcers showed histopathological changes consistent with venous ulcerOur patient presented with leg ulcers which led to clinical suspicion and diagnosis of Klinefelter's syndrome.
03 - 04 Dec 2001
Society for Endocrinology