ESPE Abstracts

Objective: To analyze the structure of puberty delay in girls depending on the etiology of the disease.

Materials and methods: 51 girls with puberty delay (14.2±0.82) were examined. Inclusion criteria: absence of secondary sex characteristics at 13; or absence of menarche by age 15 years or the absence of menarche during 3 years from the onset of estrogen-dependent puberty signs development. Exclusion criteria: age ≥18, аmbiguous genitalia. Tanner stage, antropometric data, bone ages, genitometric parametres, LH, FSH, estradiol, testosterone, DHEA, inhibin B, AMH were provided. Stimulation tests using gonadotropin analog (n=24), cytogenetic (n=45), molecular genetic tests (n=7) and brain MRI with contrast (n=5). According to the results of complex examination and follow-up all the patients were divided into 2 groups depending on the onset of menarche: 1st group with permanent puberty delay (hypogonadotropic/hypergonadotropic hypogonadism) and 2nd group with transient puberty delay (functional hypogonadism/constitutional puberty delay).

Results: the permanent puberty delay was observed in 51% (26/51), which was caused by hypergonadotropic hypogonadism in 80.8% (21/26) and by hypogonadotropic hypogonadism in 19.2% (5/26, P<0.001) of girls. Transient puberty delay was diagnosed in 49% (25/51) which was caused by functional hypogonadism in 52% (13/25), by constitutional delay of puberty in 48% (12/25, P=0.778). Among girls with hypergonadotropic hypogonadism Turner syndrome was diagnosed in 42.9% (9/21), disorders of sex development 46,XY was diagnosed in 33.3% (7/21), disorders of sex development 46, XX in 23.8% (5/21). Moreover, the causes of disorders of sex development 46,XY included pure gonadal dysgenesis 46,XY in 57.1%(4/7), androgen insensitivity syndrome (complete form) in 42.9% of cases (3/7). Isolated hypogonadotropic hypogonadism diagnosed in 60% (3/5) while hypogonadotropic hypogonadism as a manifestation of hypopituitarism was diagnosed in 40%(2/5). Functional hypogonadism was caused by decompensation of type 1 diabetes mellitus in 46.2%(6/13), protein-energy malnutrition in 46.2%(6/13), celiac disease in 7.6%(1/13).

Conclusion: puberty delay structure in girls includes the equal proportions of transient and permanent hypogonadism cases. Hypergonadotropic hypogonadism is more often associated with permanent puberty delay (Turner syndrome, disorders of sex development, pure gonadal dysgenesis 46, ХХ, pure gonadal dysgenesis 46, XY, androgen insensitivity syndrome), while hypogonadotropic hypogonadism (isolated gonadotropin deficiency and hypopituitarism) is diagnosed in 1 out of 10 cases. Transient puberty delay as a result of constitutional delay of puberty in girls is observed as often as when it caused by functional hypogonadism due to somatogenic pathology (type 1 diabetes mellitus, protein – energy malnutrition, celiac disease).