We determined isochromosome Xq karyotype in a 14-year-old female patient having delayed puberty. The diagnosis of infertile Turner's syndrome was made later, based on the presence of the primary amenorrhea and additional features such as growth retardation (her height and weight were 132 cm and 45 kg, respectively) and unusual hormonal profile. She had high plasma gonadotropin and low ovarian hormone levels (LH: 42 mlU/mL, FSH: 14 mlU/mL, estradiol: 27 pg/mL, and progesterone: 0.6 ng/mL). Karyotypes in the peripheral blood cells were pure isochromosome Xq constitution; 46,X,i(Xq). Ultrasonography showed that uterus dimensions were 3x2x2 cm and ovaries were streak. The patient did not show other classical Turner's syndrome traits such as broad chest, neck webbing, low posterior hairline, renal and cardiovascular anomalies. [Journal of Turgut Özal Medical Center 1997;4(1):109-111]
Key Words: Turner's syndrome, isochromosome Xq
|
