Nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency: a review of our experience with 25 female patients.
OBJECTIVE
To report 15 new menarcheal women affected with nonclassical 3 beta-hydroxysteroid dehydrogenase deficiency (nonclassical 3 beta-HSD) and evaluation of glucocorticoid therapy in treated patients.


METHODS
Diagnosis of these new patients using a standard adrenocorticotropin test. Effects of glucocorticoid therapy on clinical hormonal and sonographic features of each patient are appreciated for periods varying between 4 months and 7 1/2 years.


METHODS
All at The New York Hospital-Cornell Medical Center. The Pediatric Endocrinology Ambulatory Service; the Children's Clinical Research Center Core Laboratories; and the Department of Radiology.


METHODS
Fifteen menarcheal women (14 to 30 years of age) newly diagnosed and 10 women previously diagnosed were evaluated for symptoms of hyperandrogenism and/or irregular menses.


METHODS
Positive effect of glucocorticoid therapy on signs and symptoms, hormonal levels, and ovarian imaging.


RESULTS
Polycystic ovarian syndrome is noted in approximately half the cases. Glucocorticoid treatment greater than 3 months duration results in a reversal of symptoms in most cases.
Schram
P
P
Department of Pediatrics, New York Hospital-Cornell Medical Center, New York 10021.
Zerah
M
M
Mani
P
P
Jewelewicz
R
R
Jaffe
S
S
New
M I
MI
D015096:3-Hydroxysteroid Dehydrogenases / Q000097:blood / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000097:blood; D005260:Female; D005938:Glucocorticoids / Q000494:pharmacology / Q000627:therapeutic use; D006801:Humans; D011085:Polycystic Ovary Syndrome / Q000097:blood / Q000188:drug therapy / Q000201:enzymology
D000728:Androgens; D005938:Glucocorticoids; D015096:3-Hydroxysteroid Dehydrogenases