We report a case of 33-year old female with underlying genetic susceptibility for familial porphyria cutanea tarda (PCT) due to novel UROD variant (c.636+2 dupT) unmasked by transient exposure to supraphysiological estrogen levels following a single cycle of successful controlled ovarian stimulation for oocyte retrieval. Use of oral estrogen in the form of oral contraceptive pills and hormone replacement therapy has been well known to trigger active PCT phenotype in susceptible women. However, to date the emergence of clinically overt PCT has not been reported in association with fertility treatment in the literature before.

Keywords: Familial PCT, UROD mutation, Ovarian stimulation, Estrogen

我们报告了一例33岁女性，由于新的UROD变异体（c.636 + 2 dupT）而暴露于超生理雌激素水平的短暂暴露，仅经过一个成功的控制周期后，就隐匿了家族性卟啉单胞菌（PCT）的潜在遗传敏感性卵巢刺激以恢复卵母细胞。众所周知，以口服避孕药和口服激素替代疗法的形式使用口服雌激素会触发易感女性的主动PCT表型。然而，迄今为止，在以前的文献中尚未报道与生育治疗相关的临床上公开的PCT的出现。

关键词：家族性PCT，UROD突变，卵巢刺激，雌激素