Department of Obstetrics and Gynecology, Fukushima Medical University School of Medicine.
Fukushima Medical Center for Children and Women, Fukushima Medical University.
Fukushima J Med Sci. 2022 Apr 8;68(1):49-55. doi: 10.5387/fms.2021-09. Epub 2022 Mar 19.
Kallmann syndrome, a congenital disorder of idiopathic hypogonadotropic hypogonadism associated with anosmia, results in infertility because of anovulation. Assisted reproductive technology (ART) is considered when optimal ovulation induction therapy is difficult or when several cycles of ovulation induction therapy do not result in pregnancy. However, evidence is lacking regarding the optimal ART treatment for Kallmann syndrome. We report the case of a 33-year-old woman who successfully achieved pregnancy and delivery after ART treatment. At 29 years old, she was diagnosed with Kallmann syndrome due to hypothalamic amenorrhea and anosmia. At 33 years old, she revisited the hospital, desiring a child after one year of infertility. Due to anovulation, she was treated with gonadotropin therapy, but controlling follicular development was difficult, and thus ART treatment was initiated. The controlled ovarian stimulation (COS) protocol for ART treatment employed gonadotropins, recombinant follicular stimulating hormone/human menopausal gonadotropin plus human chorionic gonadotropin, to promote follicular growth. Four oocytes were retrieved, and two cleaved embryos were vitrified and cryopreserved. After vitrified-warmed embryo transfer of a morula stage embryo in a hormone replacement cycle, pregnancy was achieved but resulted in a miscarriage. A second oocyte retrieval was performed under the same COS; four oocytes were retrieved, and two cleaved embryos were vitrified and cryopreserved. Further, a pregnancy was achieved through the vitrified warmed embryo transfer. At 40 weeks and 6 days of gestation, a baby boy weighing 3,344 g with an Apgar score of 7/8 was delivered vaginally. The mother's postpartum course and neonate were free from adverse events. For women with Kallmann syndrome, ART treatment and selective embryo cryopreservation may be a reasonable and safe option.
卡尔曼综合征是一种先天性特发性低促性腺激素性性腺功能减退伴嗅觉缺失的疾病,导致无排卵而引起不孕。当最佳排卵诱导治疗困难或排卵诱导治疗几个周期未能导致妊娠时,会考虑使用辅助生殖技术(ART)。然而,关于卡尔曼综合征的最佳 ART 治疗方法,证据尚不足。我们报告了一例 33 岁女性的病例,她在接受 ART 治疗后成功怀孕并分娩。该患者 29 岁时因下丘脑性闭经和嗅觉缺失而被诊断为卡尔曼综合征。33 岁时,她因不孕 1 年而再次就诊,希望生育孩子。由于无排卵,她接受了促性腺激素治疗,但卵泡发育难以控制,因此开始了 ART 治疗。ART 治疗的控制性卵巢刺激(COS)方案使用促性腺激素,重组卵泡刺激素/人绝经期促性腺激素加人绒毛膜促性腺激素,以促进卵泡生长。共取出 4 个卵母细胞,2 个分裂胚胎被玻璃化并冷冻保存。在激素替代周期中进行玻璃化冷冻解冻胚胎移植后,妊娠成功,但导致流产。在相同的 COS 下进行第二次卵母细胞采集;共取出 4 个卵母细胞,2 个分裂胚胎被玻璃化并冷冻保存。进一步通过玻璃化冷冻解冻胚胎移植实现妊娠。在 40 周零 6 天,阴道分娩出一名体重 3344 克、阿普加评分为 7/8 的男婴。母亲产后和新生儿均无不良事件。对于卡尔曼综合征患者,ART 治疗和选择性胚胎冷冻保存可能是一种合理且安全的选择。