Controlled ovarian stimulation and IVF pregnancy in a trisomy X carrier with associated hypogonadotropic hypogonadism

Abstract

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.

Chinese abstract

我们描述了与促性腺激素释放激素受体(GnRHr)基因等位基因染色体4双突变有关的X-三体携带与低促性腺素性功能减退症(HH)患者的成功控制性促排卵(COS)和首次已知的IVF妊娠。先前推荐HH患者的低剂量促性腺激素导致卵泡募集不良。由于X-三体是卵巢储备降低（DOR）和卵巢功能不全（POI）的危险因素, 更高剂量的促性腺激素可导致更好的卵巢反应。阅读本报告可知晓达到相关水平实验室的正确遗传评估作为此类患者治疗计划可靠依据的重要性。

Keywords:

• Controlled ovarian stimulation
• genetics
• hypogonadotropic hypogonadism
• infertility
• trisomy X

Declaration of interest

No potential conflict of interest was reported by the authors.