背景: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,由周期性促性腺激素释放激素分泌不足引起,导致青春期延迟或缺失和不孕。女性CHH患者,最常用的治疗方法是促性腺激素(Gn)治疗。由于这种疾病在女性中的罕见,病例报告有限。本文为这种不寻常的疾病提供了一种管理方法,可以对临床医生有所帮助。
方法:我们报道了一例29岁的女性,她在排卵诱导治疗后成功怀孕并分娩了健康的双胞胎女孩。由于原发性闭经和没有第二性征,患者在18岁时被诊断为CHH。经历了三年的不孕症后,病人因怀孕而寻求医疗援助。由于无排卵,患者接受促性腺激素治疗。在她的第一个治疗周期中,用于治疗的HMG的初始剂量为75IU,六天后增加到150IU。然而,由于卵泡发育不良,该周期被取消.在第二个周期中,治疗以150IU的初始剂量开始,卵泡正常生长,但是雌激素水平很低。因此,治疗中断。在第三个排卵刺激周期中,HMG调整为150IU,加入重组LH。排卵12天后,三个成熟的卵泡生长,雌激素水平正常,治疗导致成功的排卵和随后的怀孕。妊娠35周时,患者接受了剖宫产术,分娩了2例健康女婴,分别为2,405g和2,755g,Apgar评分为10/10.
结论:早期诊断和及时适当的激素替代疗法对未来的妊娠很重要。排卵诱导治疗是刺激生育能力所必需的。Gn治疗是CHH女性生殖的可行和有效的治疗方法,但Gn类型和剂量的选择必须个性化,以最大限度地提高生育结果。有效的治疗不仅可以诱导雌激素化和促进生育,而且也是为了解决对心理和情感健康的担忧。
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.