Clinical Investigation of Primary Amenorrhea

Rhee, Jeong Ho

Abstract

OBJECTIVE
To assess the etiologic diagnosis of primary amenorrhea and review the clinical significance in management of primary amenorrhea.
METHODS
To make the accurate etiologic diagnosis of primary amenorrhea, karyotype, hormone study (TSH, Prolactin, LH, FSH, Estradiol, Testosterone, DHEA-S), various imaging techniques were performed in total 57 patients. And additional GnRH stimulation test and bone densitometry were also performed in group of hypogonadotropic amenorrhea with normal sella and brain imaging for discriminating the hypothalamic and pituitary cause and in patients with low estrogenic state for identifying the risk of osteoporosis, respectively, then reviewed as to clinical significance according to etiologic classification, karyotypical abnormalities, and risk of osteoporosis in low estrogenic group.
RESULTS
The range of age at diagnosis was from 13 to 34 years, most commonly, 17-18 years, 26.3%. The most common causes of primary amenorrhea was 46,XX ovarian failure and hypothalamic failure, 19.3% and 19.3%, respectively. The next common causes were genetic disorder related with Turner syndrome (17.5%), M llerian agenesis (12.3%), complete androgen insensitivity syndrome (10.5%), orderly. In cytogenetic study, 19 patients (34%) showed abnormal karyotype, of abnormal karyotypes, Turner genotype was most common (52%), and 46,XY was second most common (31.5%). Almost all patients with low estrogenic state showed osteopenia or osteoporosis.
CONCLUSION
The most common causes of primary amenorrhea were 46,XX gonadal failure, hypothalamic failure, Turner syndrome. These all patients were at high risk of osteoporosis or osteopenia.