Pediatric Endocrinology Clinic,Pediatrics department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
Radiology Department, Faculty of Medicine, Ain Shams University, Cairo, Egypt.
J Pediatr Endocrinol Metab. 2024 Mar 11;37(4):336-340. doi: 10.1515/jpem-2023-0462. Print 2024 Apr 25.
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder characterized by impaired activity of the enzyme required for cortisol and aldosterone production, resulting in increased adrenal androgen synthesis. Factors affecting fertility in CAH patients include ambiguous genitalia and their complications, excessive androgen secretion, adrenal progesterone hypersecretion, and various psychosocial factors. Serum anti-Müllerian hormone (AMH) level is used to assess ovarian reserve in women. A few data on serum AMH levels in CAH patients are available in the literature. The aim of the study was to evaluate ovarian reserve in a group of post-menarche females diagnosed with CAH by measuring serum AMH level and assessing the number of antral follicles sonographically.
A case-control study was conducted on 17 post-pubertal CAH females and 17 age-matched healthy female controls; the mean age of the patient group was 15.09 ± 3.55 years ranging from 11 to 24 years, while the mean age of the control group was 16.04 ± 3.72 years ranging from 12 to 25 years, the mean post-menarchal age of the patients group was 3.29 ± 1.37 years ranging from 1 to 6 years while the mean post-menarchal age of the control group was 4.13 ± 1.62 years ranging from 1 to 9 years. The degree of hirsutism was compared between the two groups according to the modified Ferriman-Gallwey score, clitoral length was assessed using a digital caliber. Serum levels of adrenal androgens in addition to basal levels of serum follicle-stimulating hormone (FSH), luteinizing hormone (LH), estradiol, progesterone, and serum AMH were measured in both groups.
Patients had smaller uterine volumes, and smaller ovarian volumes but a comparable number of antral follicles and comparable serum AMH levels relative to controls.
Good compliance with treatment in patients with CAH results in good hormonal control, low risk of PCOS, good fertility parameters, and a good ovarian reserve.
先天性肾上腺皮质增生症（CAH）是一种常染色体隐性遗传病，其特征是皮质醇和醛固酮产生所需的酶活性受损，导致肾上腺雄激素合成增加。影响 CAH 患者生育能力的因素包括生殖器模糊和其并发症、雄激素过度分泌、肾上腺孕酮分泌过多以及各种社会心理因素。血清抗苗勒管激素（AMH）水平用于评估女性的卵巢储备功能。文献中已有少量关于 CAH 患者血清 AMH 水平的数据。本研究的目的是通过测量血清 AMH 水平并评估经阴道超声检查的窦卵泡数来评估一组青春期后确诊为 CAH 的女性的卵巢储备功能。
对 17 名青春期后的 CAH 女性患者和 17 名年龄匹配的健康女性对照组进行病例对照研究；患者组的平均年龄为 15.09±3.55 岁，年龄范围为 11 至 24 岁，而对照组的平均年龄为 16.04±3.72 岁，年龄范围为 12 至 25 岁，患者组的初潮后年龄平均为 3.29±1.37 岁，年龄范围为 1 至 6 岁，而对照组的初潮后年龄平均为 4.13±1.62 岁，年龄范围为 1 至 9 岁。根据改良 Ferriman-Gallwey 评分比较两组的多毛症程度，使用数字卡尺评估阴蒂长度。测量两组血清肾上腺雄激素水平以及基础血清卵泡刺激素（FSH）、黄体生成素（LH）、雌二醇、孕酮和血清 AMH 水平。
与对照组相比，患者的子宫体积较小，卵巢体积较小，但窦卵泡数量和血清 AMH 水平相当。
CAH 患者治疗依从性好，可实现良好的激素控制、降低 PCOS 风险、良好的生育参数和良好的卵巢储备功能。
