Eldar-Geva Talia, Hirsch Harry J, Rabinowitz Ron, Benarroch Fortu, Rubinstein Orit, Gross-Tsur Varda
Department of Obstetrics and Gynecology, Shaare Zedek Medical Center, Jerusalem 91031, Israel.
Horm Res. 2009;72(3):153-9. doi: 10.1159/000232489. Epub 2009 Sep 1.
BACKGROUND/AIMS: To investigate the etiology of hypogonadism in women with Prader-Willi Syndrome (PWS).
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.
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.
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.
背景/目的：研究普拉德-威利综合征（PWS）女性性腺功能减退的病因。
纳入10名年龄为23±5.5岁的PWS女性和10名年龄及体重指数匹配的对照者。在自然周期的第2 - 4天或从闭经女性中随机抽取血样并进行腹部超声检查。将PWS女性的抗苗勒管激素（AMH）、抑制素B（INB）、促性腺激素、性激素、促甲状腺激素、催乳素、卵巢体积和窦卵泡计数（AFC）与对照者的结果及参考范围进行比较。
与对照者相比，PWS女性的INB水平较低（均值±标准差 = 17.6±12.8 pg/ml vs. 110.6±54.5；p = 0.0002），AMH水平也较低（1.18±0.86 ng/ml vs. 3.53±2.42；p = 0.01）。所有PWS女性的INB水平都极低，但个体AMH水平与对照者有重叠。与对照者相比，PWS组的卵巢体积（均值±标准差 = 3.7±2.3 ml vs. 30.5±28.8；p = 0.03）和AFC（6.4±6.9 vs. 14.0±8.2；p = 0.01）较低。3名PWS患者的促卵泡生成素水平异常升高，而只有1名患者为低促性腺激素性性腺功能减退。
我们的结果表明PWS女性存在独特的卵泡期特异性损伤。因此，原发性卵巢功能障碍是PWS女性性腺功能减退的主要组成部分。
