Bachelot Anne, Touraine Philippe
AP-HP, hôpital Pitié-Salpêtrière, service d'endocrinologie et médecine de la reproduction et centre de référence des maladies endocriniennes rares de la croissance, 75013 Paris, France; UPMC université Paris 06, 75005 Paris, France.
AP-HP, hôpital Pitié-Salpêtrière, service d'endocrinologie et médecine de la reproduction et centre de référence des maladies endocriniennes rares de la croissance, 75013 Paris, France; UPMC université Paris 06, 75005 Paris, France.
Presse Med. 2014 Apr;43(4 Pt 1):428-37. doi: 10.1016/j.lpm.2013.10.006. Epub 2014 Mar 11.
Congenital adrenal hyperplasia (CAH) is the commonest genetic endocrine disorder. Mutations in the 21-hydroxylase gene account for 95 % of cases. CAH is classified according to symptoms and signs and to age of presentation. The clinical phenotype is typically classified as classic, the severe form, or nonclassic (NCF), the mild or late-onset form. Classic CAH is a life-long chronic disorder. In childhood, treatment focuses on genital surgery and optimization of growth and pubertal development. Priorities change with increasing age, typically focusing on fertility in early adult life and prevention of metabolic syndrome and osteoporosis in middle and older age. Recent studies highlight the importance of long-term follow-up of these patients and of transitional care between childhoods to adult life. In nonclassic CAH women, subfertility is mild compared with the classic form and seems to be mainly due to hormonal imbalance. Menstrual cycle or ovulation disorders observed in these women who consulted for infertility are in most cases corrected by hydrocortisone treatment, which led to simultaneous lowering of plasma androgen levels and rapid occurrence of pregnancy. Hydrocortisone also reduces the incidence of miscarriages. Several studies have reported that near 60 % of nonclassic CAH patients are carriers of a severe mutation. These patients may therefore give birth to a child with the classical form of CAH if their partner is also carrying a severe mutation. Due to the high frequency of CYP21A2 mutations in the general population, it is essential to genotype the partner of NC-CAH patients with one severe mutation to offer genetic counselling.
先天性肾上腺皮质增生症（CAH）是最常见的遗传性内分泌疾病。21-羟化酶基因突变占病例的95%。CAH根据症状体征及发病年龄进行分类。临床表型通常分为经典型（严重形式）或非经典型（NCF，轻度或迟发型）。经典型CAH是一种终身慢性疾病。在儿童期，治疗重点在于生殖器手术以及生长和青春期发育的优化。随着年龄增长，重点会发生变化，通常在成年早期关注生育能力，在中年及老年期关注代谢综合征和骨质疏松症的预防。最近的研究强调了对这些患者进行长期随访以及儿童期到成年期过渡性护理的重要性。在非经典型CAH女性中，与经典型相比，生育力低下程度较轻，似乎主要是由于激素失衡。这些因不孕前来咨询的女性中观察到的月经周期或排卵障碍，在大多数情况下通过氢化可的松治疗得以纠正，这导致血浆雄激素水平同时降低并迅速受孕。氢化可的松还可降低流产发生率。几项研究报告称，近60%的非经典型CAH患者携带严重突变。因此，如果他们的伴侣也携带严重突变，这些患者可能会生下患有经典型CAH的孩子。由于普通人群中CYP21A2突变的频率较高，对携带一个严重突变的非经典型CAH患者的伴侣进行基因分型以提供遗传咨询至关重要。
