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21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity
M A Cohen1, M V Sauer, S R Lindheim
1Department of Obstetrics and Gynecology, Columbia Presbyterian Medical Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Objective:
To report a case of cryptic 21-hydroxylase deficiency identified at the time of ovum donation in a patient with Turner's syndrome.
Design:
Case report.
Setting:
University IVF practice.
Patient(S):
A 28-year-old woman with Turner's syndrome who presented for ovum donation.
Intervention(S):
Four cycles of donor IVF.
Main Outcome Measure(S):
Pregnancy, endometrial appearance, progesterone, and 17-hydroxyprogesterone values.
Result(S):
The patient failed two fresh and two frozen ET cycles with donated oocytes. The appearance of the endometrium suggested elevated progesterone before progesterone supplementation. An elevated progesterone was detected but not suppressed by leuprolide acetate. Progesterone was suppressed by adding dexamethasone. The diagnosis of cryptic 21-hydroxylase deficiency was confirmed biochemically.
Conclusion(S):
Patients with Turner's syndrome reportedly have poorer outcomes with donor IVF than other women. They also have an increased incidence of carrying a defective 21-hydroxylase gene. We suggest that some of the poorer outcomes may be explained by the presence of elevated progesterone and recommend evaluation of possible congenital adrenal hyperplasia in patients with Turner's syndrome who want oocyte donation.