经典型半乳糖血症患者尽管抗苗勒管激素检测不到仍可怀孕。
Pregnancy in classic galactosemia despite undetectable anti-Müllerian hormone.
作者信息
Gubbels Cynthia S, Kuppens Simone M I, Bakker Jaap A, Konings Constantijn J A M, Wodzig K Will, de Sain-van der Velden Monique G M, Menheere Paul P, Rubio-Gozalbo M Estela
机构信息
Department of Pediatrics, Maastricht University Medical Center, Maastricht, The Netherlands.
出版信息
Fertil Steril. 2009 Apr;91(4):1293.e13-6. doi: 10.1016/j.fertnstert.2008.12.031. Epub 2009 Feb 7.
OBJECTIVE
To report a pregnancy in a patient with classic galactosemia despite signs of no ovarian reserve to draw attention to the limited predictive value of ovarian reserve tests in these patients.
DESIGN
Case report.
SETTING
Secondary and tertiary care center.
PATIENT(S): A patient with classic galactosemia with premature ovarian failure and two previous pregnancies.
INTERVENTION(S): Exogenous FSH ovarian reserve test and anti-Müllerian hormone (AMH) measurement.
MAIN OUTCOME MEASURE(S): 17beta-Estradiol response, AMH level.
RESULT(S): Pregnancy despite undetectable AMH (<0.1 microg/L) and no E(2) response (exogenous FSH ovarian reserve test).
CONCLUSION(S): Fluctuating premature ovarian failure makes fertility counseling of patients with classic galactosemia difficult. Commonly used ovarian function and reserve tests seem to have no significance.
目的
报告1例患有典型半乳糖血症的患者怀孕，尽管其存在卵巢储备功能缺失的迹象，以此引起对这些患者卵巢储备功能检测有限预测价值的关注。
设计
病例报告。
地点
二级和三级护理中心。
患者
1例患有典型半乳糖血症且卵巢早衰的患者，此前有过两次怀孕经历。
干预措施
外源性促卵泡激素（FSH）卵巢储备功能检测及抗苗勒管激素（AMH）测定。
主要观察指标
17β-雌二醇反应、AMH水平。
结果
尽管抗苗勒管激素检测不到（<0.1微克/升）且外源性促卵泡激素卵巢储备功能检测无雌二醇反应，但患者仍怀孕。
结论
波动性卵巢早衰使典型半乳糖血症患者的生育咨询变得困难。常用的卵巢功能和储备功能检测似乎并无意义。
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