Clinical and hormonal characteristics of delayed puberty in girls with hypergonadotropic hypogonadism

• Kseniya L. Kabolova

Abstract

Objectives - to study the clinical and hormonal characteristics of delayed puberty in girls with hypergonadotropic hypogonadism.

Methods. 33 girls, 14.9±0.7 years, with delayed puberty were examined. Entry criteria were the absence of secondary sex characteristics at the age of 13 and older and/or in case of absence of the menarche at the age of 15 or older. The stage of sexual development was evaluated according to Tanner, anthropomorphic and genitometric parameters, bone age, FSH, LH, testosterone, estradiol levels in blood serum, histological, cyto- and molecular-genetic research.

Results. Depending on the levels of gonadotrophic hormones, patients were divided into 2 groups: high (n=14) and normal/ low level (n=19). The girls of both groups had the same height, body mass index and bone age. Bone age and pathologic delayed bone age occurred with the same frequency. In the group of girls with hypergonadotropic hypogonadism ovaries of 57,14% (8/14, р=0,021) of patients were not visualized according to ultrasound. The girls with hypergonadotropic hypogonadism had more obvious delayed puberty.

Cyto- and molecular-genetic analysis in the group of girls with hypergonadotropic hypogonadism made it possible to diagnose the Shereshevsky-Turner syndrome (6/14), complete insensitivity to androgens, caused by the hemizygous mutation of the AR gene (1/14), total gonadal dysgenesis with the karyotype of 46,XX (3/14), total gonadal dysgenesis with the karyotype of 46,XY (7/14), of them in two cases - SRY-positive, in one case SRY-negative variant and in one case, caused by heterozygous mutation of WT1 gene. Three patients with karyotype 46,XY were performed a bilateral gonadectomy. In two girls with total gonadal dysgenesis in one case, gonadoblastoma was diagnosed, in the other - dysgerminoma in combination with gonadoblastoma.

Conclusion. Hypergonadotropic hypogonadism in the structure of delayed puberty in girls is represented Shereshevsky-Turner syndrome (42.8%), total dysgenesis of gonads with karyotype 46,XY and 46,XX (28.5% vs 21.4%), complete insensitivity to androgens (7.3%). High risk of neoplastic transformation in patients with total gonadal dysgenesis with karyotype 46,XY identifies the need for bilateral gonadectomy.

Keywords:hypergonadotropic hypogonadism, primary amenorrhea, total gonadal dysgenesis

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