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  • Title: [Diagnostic principles of gonadal dysgenesis in adolescents].
    Author: Chipashvili MK, Kristesashvili DI, Chopikashvili NA, Kopaliani NSh.
    Journal: Georgian Med News; 2005 Nov; (128):24-8. PubMed ID: 16369057.
    Abstract:
    103 patients aged 11-20 with short stature and/or with delayed puberty were studied. Among all patients classical form of gonadal dysgenesis was diagnosed in 31 patients (karyotype 45,X- 17 patients, 45,X/46,XX- 14), "mixed" gonadal dysgenesis in one patient (karyotype 45,X/46,XY)-, "pure" gonadal dysgenesis- in 5 cases (karyotype 46,XY-in 4 , 45,X -- in one). The majority of cases (66) were diagnosed as ovarian dysgenesis with the mosaic karyotype- 46,XX/45,X. In the clinical diagnostics of ovarian dysgenesis some difficulties were aroused because of slight reduction of height and delayed sexual development, mild appearance absence or somatic anomalies. The main diagnostic criteria for the various forms of gonadal dysgenesis are detection of characteristic karyotype and hypogonadotropic hypogonadism. Characteristic phenotype is more informative in the cases of classical and "mixed" forms of gonadal dysgenesis. Early diagnosis of gonadal dysgenesis is very important for effective correction of height and sexual development. Timely begin hormonal therapy may avoid complications induced bihypoestrogenia, such are: osteoporosis, cardiovascular diseases and etc. Karyotype investigation and in the cases of revealing Y chromosome material, and therefore gonadectomy must precede the beginning of hormonal therapy.
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