Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman.
Ключови думи
Резюме
OBJECTIVE
To report for the first time a case of postmenopausal endometrial hyperplasia caused by nonclassic 21-hydroxylase deficiency (NC21OHD). The specific combination of mutations associated with this case has never before been reported.
METHODS
Case report.
METHODS
Private academic practice.
METHODS
A 67-year-old woman with uterine bleeding due to endometrial hyperplasia was found to have premenopausal gonadotropins with elevated estrogens. Endocrine workup revealed increased 17-hydroxyprogesterone (17-OHP), which led to molecular testing to establish a diagnosis of NC21OHD.
METHODS
Trial of suppression with low-dose oral dexamethasone.
METHODS
Resolution of postmenopausal bleeding.
RESULTS
Total estrogens normalized with treatment, and the endometrial stripe became normal.
CONCLUSIONS
This is an unusual case of NC21OHD in which the sole presentation was persistent endometrial hyperplasia, with bleeding past the normal age for menopause. In women with unusual endometrial hyperplasias of this type, we suggest endocrine testing before proceeding to hysterectomy.
