[A patient with Klinefelter's syndrome and growth hormone deficiency].

INTRODUCTION Short stature in Klinefelter's syndrome was reported sporadically and was connected with the karyotype 49,XXXXY. AIM OF THE STUDY The presentation of growth in a boy with Klinefelter's syndrome and somatotropine deficiency. CASE REPORT A 10-year-old boy was examined in the Department of Endocrinology because of short stature and mild mental retardation. On admission, a height 117 cm (<3 percentile) and a body weight 20 kg (<3 percentile) were reported. The boy was in the prepubertal stage of life. The bone age was delayed by 5 years in comparison to the calendar age. Serum levels of thyroid hormones were within the normal range. Deficiency of growth hormone was diagnosed because maximal serum levels of growth hormone in stimulating tests with clonidine and insulin did not exceed 10.7 muIU/ml. During substitutive therapy with growth hormone an acceleration of growth rate was achieved. Because of the lack of consent to therapy from the boy and his family, the treatment was withheld after 1 year and 7 months - the boy was 135.6 cm high then. The patient was again examined in the Department of Endocrinology at the age of 14 years and 8 months because of breast enlargement. He had grown 25.4 cm and was 161.0 cm high (10 percentile). Puberty stage G1P3A3 was observed. Because of the low testosterone and increased gonadotropin serum levels hypergonadotropic hypogonadism was diagnosed and testosterone therapy was employed. The genetic investigation revealed Klinefelter's syndrome with 47,XXY karyotype. In the 16th year of life the patient was 175 cm high (25-50 percentile). CONCLUSION Patients with Klinefelter's syndrome may accelerate growth rate in the pubertal period of life even if they have growth hormone deficiency.