21-hydroxylase deficiency and Turner's syndrome: a reason for diminished endometrial receptivity.
OBJECTIVE
To report a case of cryptic 21-hydroxylase deficiency identified at the time of ovum donation in a patient with Turner's syndrome.


METHODS
Case report.


METHODS
University IVF practice.


METHODS
A 28-year-old woman with Turner's syndrome who presented for ovum donation.


METHODS
Four cycles of donor IVF.


METHODS
Pregnancy, endometrial appearance, progesterone, and 17-hydroxyprogesterone values.


RESULTS
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.


CONCLUSIONS
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.
Cohen
M A
MA
Department of Obstetrics and Gynecology, Columbia Presbyterian Medical Center, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA.
Sauer
M V
MV
Lindheim
S R
SR
D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D004717:Endometrium / Q000503:physiopathology*; D005260:Female; D005307:Fertilization in Vitro; D006801:Humans; D018587:Oocyte Donation; D011247:Pregnancy; D014424:Turner Syndrome / Q000503:physiopathology*