Primary ovarian dysfunction contributes to the hypogonadism in women with Prader-Willi Syndrome.
OBJECTIVE
To investigate the etiology of hypogonadism in women with Prader-Willi Syndrome (PWS).


METHODS
Ten women aged 23 +/- 5.5 years with PWS and 10 age- and BMI-matched controls were included. Blood samples were drawn and abdominal ultrasounds were performed on days 2-4 of spontaneous cycles or at random from amenorrheic women. Anti-Mullerian hormone (AMH), inhibin B (INB), gonadotropins, sex steroids, TSH, prolactin, ovarian volume and antral follicle count (AFC) in PWS women were compared with results from controls and the reference ranges.


RESULTS
Compared to controls, PWS women had lower INB (mean +/- SD = 17.6 +/- 12.8 pg/ml vs. 110.6 +/- 54.5; p = 0.0002) and AMH levels (1.18 +/- 0.86 ng/ml vs. 3.53 +/- 2.42; p = 0.01). INB levels were exceptionally low in all PWS women, but individual AMH levels overlapped with the levels in the controls. Ovarian volume (mean +/- SD = 3.7 +/- 2.3 ml vs. 30.5 +/- 28.8; p = 0.03) and AFC (6.4 +/- 6.9 vs. 14.0 +/- 8.2; p = 0.01) were lower in the PWS group compared to the controls. Three PWS patients had abnormally high follicle-stimulating hormone levels, while only 1 had hypogonadotropic hypogonadism.


CONCLUSIONS
Our results suggest a unique follicular stage-specific insult in women with PWS. Thus, primary ovarian dysfunction is a major component of hypogonadism in PWS.
Eldar-Geva
Talia
T
Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem 91031, Israel. gevat@szmc.org.il
Hirsch
Harry J
HJ
Rabinowitz
Ron
R
Benarroch
Fortu
F
Rubinstein
Orit
O
Gross-Tsur
Varda
V
D000293:Adolescent; D000328:Adult; D000728:Androgens / Q000097:blood; D054304:Anti-Mullerian Hormone / Q000097:blood; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007006:Hypogonadism / Q000209:etiology*; D007031:Hypothalamus / Q000503:physiopathology; D007265:Inhibins / Q000097:blood; D010049:Ovarian Diseases / Q000150:complications*; D010053:Ovary / Q000000981:diagnostic imaging; D010902:Pituitary Gland / Q000503:physiopathology; D011218:Prader-Willi Syndrome / Q000503:physiopathology*; D011446:Prospective Studies; D014463:Ultrasonography; D014599:Uterus / Q000000981:diagnostic imaging
D000728:Androgens; C422364:inhibin B; D007265:Inhibins; D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone