Massarotti Claudia, Fiorio Patrizia, Gastaldi Roberto, Rosaia De Santis Lucia, Pastorino Daniela, Remorgida Valentino, Anserini Paola
a Department of Neurosciences , Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa , Genoa , Italy.
b U.O.S. Cytogenetics Laboratory, Istituto Giannina Gaslini , Genoa , Italy.
Gynecol Endocrinol. 2017 Oct;33(10):763-765. doi: 10.1080/09513590.2017.1323202. Epub 2017 May 9.
We describe successful controlled ovarian stimulation (COS) and the first known IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism (HH) linked to a chromosome 4 double mutation in the allele of the Gonadotropins Releasing Hormone receptor (GnRHr) gene. Previous administration of low dose of gonadotropins, as recommended in patients with HH, led to poor follicular recruitment. Since trisomy X is a risk factor for diminished ovarian reserve (DOR) and premature ovarian insufficiency (POI), higher doses of gonadotropins led to better ovarian response. The report readknowledges the importance of a correct genetic evaluation in a competent laboratory as a reliable base for treatment planning in this kind of patients.
我们描述了一例X三体综合征携带者成功进行的控制性卵巢刺激（COS）以及首次已知的体外受精（IVF）妊娠，该患者伴有与促性腺激素释放激素受体（GnRHr）基因等位基因上的4号染色体双重突变相关的低促性腺激素性性腺功能减退（HH）。按照HH患者的推荐，先前给予低剂量促性腺激素导致卵泡募集不佳。由于X三体综合征是卵巢储备功能下降（DOR）和卵巢早衰（POI）的危险因素，较高剂量的促性腺激素导致了更好的卵巢反应。该报告认识到在有资质的实验室进行正确的基因评估对于这类患者治疗规划的可靠基础的重要性。
