Endocrine Abstracts

Introduction: Primary amenorrhea is defined as the absence of menses at age 15 years in the presence of normal growth and secondary sexual characteristics, or at 13 years, if there is no breast development. We retrospectively assessed the causes of primary amenorrhea in a series from an academic center of adult endocrinology.

Patients and methods: We retrieved data from the files of 111 consecutive patients with primary amenorrhea evaluated in our center between 2000 and 2016 – mean age at admission 23.8 years (14–58 years), mean age at diagnosis 19.5 years (7–38years).

Results: Gonadal dysgenesis (Turner syndrome included) was present in 26 patients (23.4%); idiopatic isolated hypogonadotropic hypogonadism in 22 patients (19.8%); hypopituitarism in 12 patients, usually pluritropic (10.8%); prolactinoma in 11 patients (9.9%); Müllerian agenesis or abnormalities in 7 patients (6.3%); other sellar or suprasellar tumors in 7 patients (6.3%), constitutional delay of puberty in 5 patients (4.5%); polycystic ovarian syndrome in 5 patients (4.5%); congenital adrenal hyperplasia in 5 patients (4.5%); central nervous system or cranial defects in 4 patients (3.6%), complete androgen insensitivity in 3 patients (2.7%), other causes in 4 patients. A few cases (3) with initially elevated serum FSH levels had either normal response to dipherelin test or subsequently normal gonadotropin levels, menses and even pregnancy in 1 case. Abnormalities of gonadotropin receptors have been suspected in these cases.

Compared to other reported large series, in our settings (mainly adult endocrinology care) we observe an increased prevalence of isolated hypogonadotropic hypogonadism and hypopituitarism, and fewer cases of constitutional delay of puberty. The large majority of the women with primary amenorrhea in our series did not recover the normal reproductive potential.

Conclusion: The most frequent causes of primary amenorrhea in patients evaluated in an academic center for adult endocrinology are gonadal dysgenesis, idiopatic isolated hypogonadotropic hypogonadism and hypopituitarism.