Peking University First Hospital Obstetric and Gynecology Department Reproductive and Genetic Center, No.1 Xi'an Men Street, Xi Cheng District, Beijing, China.
BMC Womens Health. 2023 Aug 4;23(1):408. doi: 10.1186/s12905-023-02492-z.
17α-hydroxylase deficiency, which is caused by a CYP17A1 gene mutation, is a rare type of congenital adrenocortical hyperplasia that mainly manifests as hypertension, hypokalaemia and sexual dysplasia. To date, few pregnancies associated with this syndrome have been reported.
We describe a 35-year-old Chinese woman with nonclassical congenital adrenal hyperplasia (NCCAH) due to 17α-hydroxylase/17,20-lyase deficiency who achieved pregnancy after in vitro fertilization (IVF) and frozen-thawed embryo transfer. She had secondary amenorrhea since she was 27, and subsequently, high level of progesterone in the follicular phase was found during a blood test. A compound heterozygous mutation was found in the CYP17A1 gene, c.1263G > A and c.985_987delinsAA. The patient was given standardized treatment with dexamethasone. Due to ovulation disorder, IVF was performed. She underwent whole embryo vitrification freezing. Frozen-thawed embryo transplantation was performed following the artificial cycle protocol of endometrium preparation, resulting in a singleton pregnancy. At 39 weeks and 1 day of gestation, caesarean section was performed due to the breech position of the foetus.
A high level of progesterone reduces endometrial receptivity. Standardized treatment with dexamethasone and frozen-thawed embryo transfer with an artificial cycle protocol of endometrium preparation should be the choice for infertile female patients with CYP17A1 deficiency.
17α-羟化酶缺陷症由 CYP17A1 基因突变引起，是一种罕见的先天性肾上腺皮质增生症，主要表现为高血压、低血钾和性发育障碍。迄今为止，报道的与该综合征相关的妊娠病例较少。
我们描述了一例 35 岁中国女性，患有非经典先天性肾上腺皮质增生症（NCCAH），病因是 17α-羟化酶/17,20-裂合酶缺陷，在体外受精（IVF）和冻融胚胎移植后成功妊娠。她自 27 岁起出现继发性闭经，随后在一次血液检查中发现卵泡期孕激素水平升高。在 CYP17A1 基因中发现了复合杂合突变，c.1263G>A 和 c.985_987delinsAA。患者接受了标准化的地塞米松治疗。由于排卵障碍，进行了 IVF。她接受了全胚胎玻璃化冷冻。根据子宫内膜准备的人工周期方案进行冻融胚胎移植，导致单胎妊娠。在 39 周 1 天，由于胎儿臀位，行剖宫产术。
孕激素水平升高会降低子宫内膜的容受性。对于 CYP17A1 缺陷的不孕女性患者，应选择标准化的地塞米松治疗和冻融胚胎移植，并采用人工周期方案进行子宫内膜准备。
