Causes and clinical characteristics of women with primary amenorrhea and ovarian or gonadal disorders at a quaternary hospital.

AIM: To evaluate the causes and clinical characteristics of primary amenorrhea and ovarian or gonadal disorders in women.

METHODS

The medical records of all women evaluated for primary amenorrhea between January 2002 and December 2023 were retrospectively reviewed. Women with missing data were excluded from the study. Disorders of the ovary or gonads (hypergonadotropic hypogonadism) were defined as increased serum follicle-stimulating hormone (FSH) levels (>40 mIU/mL).

RESULTS

Over a 21-year period, after excluding 1 woman with incomplete data, the study included 87 women who met the inclusion criteria. The median age at presentation was 18 years (interquartile range [IQR], 17-20). The median estradiol level was 5 pg/mL (IQR 5-10.4), and the median FSH level was 80 mIU/mL (IQR 63.1-94.9). The most common cause of primary amenorrhea was Turner syndrome (TS), followed by 46,XX and 46,XY gonadal dysgenesis. The median height was 147 cm (IQR, 140-158.7), and 50 women (57.5%) had karyotypic abnormalities, with TS being the most common abnormality.

CONCLUSION

TS was identified as the most common cause of primary amenorrhea with ovarian or gonadal disorders.