Engberg Hedvig, Nordenström Anna, Hirschberg Angelica Lindén
Department of Women's and Children's Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
Department of Gynecology and Reproductive Medicine, Karolinska University Hospital, SE-171 76 Stockholm, Sweden.
J Clin Endocrinol Metab. 2025 Jan 21;110(Supplement_1):S37-S45. doi: 10.1210/clinem/dgae696.
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (CAH) is a rare genetic condition that results in cortisol deficiency and excess production of adrenal androgens. While the introduction of newborn screening for CAH has reduced morbidity and mortality, management of CAH remains challenging. Lifelong treatment with glucocorticoids is required to replace the endogenous cortisol deficiency and reduce excess adrenal androgens. Undertreatment or overtreatment with glucocorticoids can lead to multiple disease- and treatment-related comorbidities, including impaired growth and compromised final height, menstrual irregularities and reduced fertility in females, and long-term cardiometabolic complications. In addition to avoiding adrenal crisis and sudden death, treatment goals in adolescent females with CAH are to obtain normal growth and bone maturation and normal timing of puberty. Management of adolescents is particularly challenging due to changes in growth and sex hormone levels that can lead to inadequate suppression of adrenal androgens and increasing independence that can affect treatment adherence. During the transition to adult care, treatment goals focus on preventing symptoms of hyperandrogenism, preserving menstrual regularity and fertility, and providing education and support for issues related to sexuality, atypical genitalia, and/or complications from previous surgical treatment. In addition, patients must be monitored continuously to prevent long-term complications such as decreased bone mineral density, obesity, diabetes, and hypertension. In this review, we discuss the challenges faced by adolescent and adult females with CAH and provide guidance to health-care professionals to help patients to navigate these challenges.
由于21-羟化酶缺乏导致的经典型先天性肾上腺皮质增生症（CAH）是一种罕见的遗传性疾病，会导致皮质醇缺乏以及肾上腺雄激素分泌过多。虽然新生儿CAH筛查的引入降低了发病率和死亡率，但CAH的管理仍然具有挑战性。需要终身使用糖皮质激素进行治疗，以弥补内源性皮质醇缺乏并减少过多的肾上腺雄激素。糖皮质激素治疗不足或过度治疗会导致多种与疾病和治疗相关的合并症，包括生长发育受损和最终身高受限、女性月经不调和生育能力下降，以及长期的心脏代谢并发症。除了避免肾上腺危象和猝死外，患有CAH的青春期女性的治疗目标是实现正常生长和骨骼成熟以及青春期的正常发育时间。由于生长和性激素水平的变化可能导致肾上腺雄激素抑制不足，以及独立性增强可能影响治疗依从性，青少年的管理尤其具有挑战性。在向成人护理过渡期间，治疗目标侧重于预防高雄激素血症症状、保持月经规律和生育能力，并为与性、生殖器异常和/或既往手术治疗并发症相关的问题提供教育和支持。此外，必须持续监测患者，以预防长期并发症，如骨密度降低、肥胖、糖尿病和高血压。在本综述中，我们讨论了患有CAH的青少年和成年女性所面临的挑战，并为医疗保健专业人员提供指导，以帮助患者应对这些挑战。
