Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman

Capsule:
Uterine bleeding and endometrial hyperplasia in a 67-year-old woman was due to late-onset 21-hydroxylase deficiency, as confirmed by genetic testing.

Authors:
Marguerite B. Vigliani, M.D. and John E. Buster, M.D.
Volume 97, Issue 4 , Pages 950-952, April 2012

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.

Design:
Case report.

Setting:
Private academic practice.

Patient(s):
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.

Intervention(s):
Trial of suppression with low-dose oral dexamethasone.

Main Outcome Measure(s):
Resolution of postmenopausal bleeding.

Result(s):
Total estrogens normalized with treatment, and the endometrial stripe became normal.

Conclusion(s):
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.

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