Kruse B, Riepe F G, Krone N, Bosinski H A G, Kloehn S, Partsch C J, Sippell W G, Mönig H
Department of Medicine I, Endocrine and Diabetes Unit, Universitätsklinikum Schleswig-Holstein/Campus Kiel, Christian-Albrechts-Universität zu Kiel, Germany.
Exp Clin Endocrinol Diabetes. 2004 Jul;112(7):343-55. doi: 10.1055/s-2004-821013.
Congenital adrenal hyperplasia (CAH) is caused by a defect in the biosynthesis of cortisol that results in maximal activity of the hypothalamic-pituitary adrenal axis with hyperplasia of the adrenals and hyperandrogenism due to the accumulation of androgen precursors. In the salt-wasting subtype of the disorder, which accounts for appr. 75 % of patients with classical CAH, patients are unable to synthesise sufficient amounts of aldosterone and are prone to life-threatening salt-losing crises, whereas the simple virilising form is predominantly characterized by clitoris hypertrophy and posterior labial fusion. In addition, a non-classical variant can be discerned which in most cases is diagnosed at the time of puberty or early adolescence when hirsutism and menstrual irregularities may occur. The vast majority of CAH patients have 21-hydroxylase deficiency (90 - 95 %). Less common forms, such as 11beta-hydroxylase deficiency, will not be discussed in this review. Unfortunately, a considerable number of CAH patients is lost to regular and competent follow-up once they move out of paediatric care. This is most probably the result of insufficient co-operation between paediatric and adult endocrinologists at the time of transition from adolescence to adulthood. Furthermore, there is a lack of clinical guidance regarding psychosexual development in these patients. In this overview we will focus on special aspects of CAH treatment in adolescence and adulthood, and report on our 10-year experience with a transfer system for endocrine patients from paediatric to internal medical care, known as the "Kieler Modell". For practical purposes, we here provide charts for follow-up of CAH patients that can be adapted for use in any endocrine outpatient clinic.
先天性肾上腺皮质增生症（CAH）是由皮质醇生物合成缺陷引起的，导致下丘脑 - 垂体 - 肾上腺轴活性增强，肾上腺增生，以及由于雄激素前体积累导致的高雄激素血症。在该疾病的失盐型中，约占经典型CAH患者的75%，患者无法合成足够量的醛固酮，容易发生危及生命的失盐危机，而单纯男性化型主要表现为阴蒂肥大和阴唇后联合。此外，还可识别出一种非经典变异型，大多数情况下在青春期或青春早期出现多毛症和月经不规律时被诊断出来。绝大多数CAH患者存在21 - 羟化酶缺乏（90 - 95%）。本综述将不讨论较少见的类型，如11β - 羟化酶缺乏。不幸的是，相当数量的CAH患者一旦脱离儿科护理，就失去了常规且专业的随访。这很可能是青春期向成年期过渡时儿科和成人内分泌科医生之间合作不足的结果。此外，这些患者在性心理发育方面缺乏临床指导。在本综述中，我们将重点关注CAH在青春期和成年期治疗的特殊方面，并报告我们在为内分泌患者建立从儿科到内科护理的转诊系统（即“基尔模式”）方面的10年经验。出于实际目的，我们在此提供CAH患者随访图表，可适用于任何内分泌门诊。
