Objective: to evaluate clinical and laboratory characteristics of various types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism.
Methods: 17 girls with hypergonadotropic hypogonadism (13.9±3.72) were examined. Inclusion criteria: characteristics of delayed puberty, no disorders of sex development, presence of müllerian duct derivatives, high levels of gonadotrophins. Tanner stage, antropometric data, bone ages, genitometric parametres, LH, FSH, estradiol, testosterone levels, cytogenetic and molecular genetic tests were provided. Results were evaluated according to the reference rages in girls.
Results: The patients were divided into 3 groups: 46,XY (29.5%, 5/17), 46,XX (23,5%, 4/17) and 45,X (47%, 8/17). Girls with Y chromosome had upper normal height (Me SDS 1.66), 46,XX had average height (Me SDS -0.02, P=0.027) and girls 45,X had low height (Me SDS -3.46, P=0.003, growth failure rate was 87.5% (in 7/8 girls, P = 0.01). There was no difference between bone ages in girls 46,XY (Me SDS -1,6) and 46,XX (Me SDS -1.9, P=0.325), which were low normal while there was delayed bone ages in girls 45,X (Me SDS 3.74, P=0.027). Girls 46,XY had more progressed Tanner stage, then 45,XX, 45,X (Me B3 vs B1 P<0,007, P<0,004 ). There were no differences between groups in uterus volumes (Me 4.24 vs 1.8 vs 2.1 ml, p>0,05) and in gonadotrophins levels (Me LH 25.1 vs 12.57 vs 25.3 uUI/ml, p>0,05; Me FSH 56.01 vs 88,4 vs 108.7 uUI/ml, p>0.05). Serum estradiol levels in girls 46,XY were higher (Me 44.81 pmol/l) compared with girls 46,XX (Me 13.75 pmol/l, P=0.013) and with girls 46,x (Me 11.29 pmol/l, P=0.028), while there was no difference between two last groups (P=0.82). Serum testosterone levels in girls 46,XY were elevated (Me T 4.6 nmol/l) compared with the levels of same-aged and were higher compared with girls 46,XX (Me T 0.25 nmol/l, P=0.015). Among girls 46,XY 4 out of 5 had bilateral gonadectomies: 2 girls had gonadoblastomas, 1 girl had gonadoblastoma/dysgerminoma and 1 benign SertoliLeydig cell tumour. Molecular genetic testings were provided in 46,XY. Heterozygote mutation of gene WT1 was diagnosed in 1 girl.
Conclusion: The following types of gonadal dysgenesis in girls with hypergonadotropic hypogonadism were diagnosed: Turner syndrome, pure gonadal dysgenesis (46 XY, 46 XX). Among 3 groups there were significant differences in girls with Y chromosome: upper normal values of height, more progressed stage of puberty and elevated estrogen and testosterone concentrations. These features can be caused by germ cell tumor.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology