Department of Human Reproductive Medicine, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, China.
BMC Pregnancy Childbirth. 2023 May 11;23(1):338. doi: 10.1186/s12884-023-05682-7.
Congenital hypogonadotropic hypogonadism (CHH) is a rare disorder resulting from a deficient secretion of the episodic gonadotropin-releasing hormone, leading to delayed or absent puberty and infertility. In female patients with CHH, the most commonly used treatment is gonadotropin (Gn) therapy. Due to the rarity of the disease in females, there are limited case reports available. This article offers a management approach for this unusual disease that can be helpful for clinicians.
We report the case of a 29-year-old woman who successfully achieved pregnancy and delivered healthy twin girls after ovulation induction therapy. The patient was diagnosed with CHH at 18 years of age due to primary amenorrhea and the absence of secondary sexual characteristics. After experiencing infertility for three years, the patient sought medical assistance for conceiving. The patient was treated with gonadotropin therapy due to anovulation. In her first treatment cycle, the initial dose of HMG used for treatment was 75IU, which was increased to 150IU after six days. However, the cycle was canceled due to follicular dysplasia. In the second cycle, the treatment began with an initial dose of 150IU, and the follicles grew normally, but the estrogen level was low. Consequently, the treatment was interrupted. In a third ovulation stimulation cycle, HMG was adjusted to 150IU, and recombinant LH was added. After 12 days of ovulation, three mature follicles grew, the estrogen level was normal,and the treatment resulted in successful ovulation and subsequent pregnancy. At 35 weeks of gestation, the patient underwent a cesarean section and delivered two healthy female infants weighing 2,405 g and 2,755 g with an Apgar score of 10/10.
Early diagnosis and timely and appropriate hormone replacement therapy are important for future pregnancy. Ovulation induction therapy is necessary to stimulate fertility. Gn therapy is a feasible and effective treatment for reproduction in CHH females, but the selection of Gn type and dosage must be personalized to maximize fertility outcomes. Effective treatment is available not only for inducing estrogenization and promoting fertility, but also for addressing concerns about psychological and emotional well-being.
先天性低促性腺激素性性腺功能减退症(CHH)是一种罕见的疾病,由于促性腺激素释放激素的间歇性分泌不足导致青春期延迟或缺失以及不育。在患有 CHH 的女性患者中,最常用的治疗方法是促性腺激素(Gn)治疗。由于该病在女性中较为罕见,因此可用的病例报告有限。本文提供了一种针对这种罕见疾病的管理方法,可为临床医生提供帮助。
我们报告了一位 29 岁女性的病例,她成功接受排卵诱导治疗后怀孕并产下了健康的双胞胎女孩。该患者因原发性闭经和第二性征缺失,于 18 岁时被诊断为 CHH。经过三年的不孕治疗,患者寻求受孕帮助。由于排卵障碍,该患者接受了促性腺激素治疗。在第一个治疗周期中,初始治疗剂量为 75IU 的 HMG,六天后增加至 150IU。然而,由于卵泡发育不良,该周期被取消。第二个周期,初始剂量为 150IU,卵泡生长正常,但雌激素水平较低。因此,治疗被中断。第三个排卵刺激周期,HMG 调整为 150IU,添加重组 LH。排卵后 12 天,三个成熟卵泡生长,雌激素水平正常,治疗成功排卵并随后怀孕。妊娠 35 周时,患者行剖宫产术,产下两名健康女婴,体重分别为 2405g 和 2755g,Apgar 评分为 10/10。
早期诊断和及时、适当的激素替代治疗对未来妊娠很重要。排卵诱导治疗对于刺激生育能力是必要的。Gn 治疗是 CHH 女性生殖的可行且有效的治疗方法,但 Gn 类型和剂量的选择必须个体化,以最大限度地提高生育结局。有效的治疗不仅可以诱导雌激素化和促进生育,还可以解决心理和情感健康问题。