Bachelot A, Chakhtoura Z, Rouxel A, Dulon J, Touraine P
Department of endocrinology and reproductive medicine (Centre de référence des maladies endocriniennes rares de la croissance), groupe hospitalier Pitié-Salpêtrière, 75013 Paris, France.
Ann Endocrinol (Paris). 2007 Sep;68(4):274-80. doi: 10.1016/j.ando.2007.06.019. Epub 2007 Aug 8.
During childhood, the main aims of the medical treatment of congenital adrenal hyperplasia (CAH) secondary to 21-hydroxylase deficiency, are to prevent salt loss and virilization and to achieve normal stature and normal puberty. As such, there is a narrow therapeutic window through which the intended results can be achieved. In adulthood, the clinical management has received little attention, but recent studies have shown the relevance of long-term follow-up of these patients. Indeed, long-term evaluation of adult CAH patients enables the identification of multiple clinical, hormonal and metabolic abnormalities as bone mineral density alteration, overweight and disturbed reproductive functions. In women with classic CAH, low fertility rate is reported, and is probably the consequence of multiple factors, including neuroendocrine and hormonal factors, feminizing surgery, and psychological factors. Men with CAH may present hypogonadism either through the effect of adrenal rests or from suppression of gonadotropins resulting in infertility. These patients should therefore be carefully followed-up, from childhood through to adulthood, to avoid these complications and to ensure treatment compliance and tight control of the adrenal androgens, by multidisciplinary teams who have knowledge of CAH.
在儿童期，继发于21-羟化酶缺乏的先天性肾上腺皮质增生症（CAH）的主要治疗目标是预防失盐和男性化，并实现正常身高和正常青春期发育。因此，存在一个狭窄的治疗窗口，通过这个窗口才能实现预期的治疗效果。在成年期，临床管理很少受到关注，但最近的研究表明对这些患者进行长期随访具有重要意义。事实上，对成年CAH患者的长期评估能够发现多种临床、激素和代谢异常，如骨矿物质密度改变、超重和生殖功能紊乱。在经典型CAH女性患者中，报道显示生育率较低，这可能是多种因素导致的结果，包括神经内分泌和激素因素、女性化手术以及心理因素。患有CAH的男性可能因肾上腺残余组织的影响或促性腺激素受到抑制而出现性腺功能减退，进而导致不育。因此，这些患者应由了解CAH的多学科团队从儿童期到成年期进行仔细随访，以避免这些并发症，并确保治疗依从性以及严格控制肾上腺雄激素水平。
