Stikkelbroeck M M L, Otten B J
Universitair Medisch Centrum St Radboud, cluster Universitair Kinderziekenhuis, afd. Kinderendocrinologie, Postbus 9101, 6500 HB Nijmegen.
Ned Tijdschr Geneeskd. 2002 Feb 9;146(6):246-9.
Congenital adrenal hyperplasia (CAH) is a disorder of adrenal steroid synthesis. In 95% of CAH cases, it is caused by 21-hydroxylase deficiency, leading to cortisol deficiency and (in most cases) aldosterone deficiency. The compensatory increase in ACTH secretion by the pituitary gland leads to stimulation of the adrenal glands and, consequently, overproduction of androgens. The classic form is well known due to the congenital virilisation seen in affected girls. However, the cortisol and aldosterone deficiency is at least equally important in both sexes as it can cause an Addisonian crisis within the first weeks of life. For these reasons, a neonatal CAH screening program has been introduced in the Netherlands. Screening results in earlier detection and treatment. The prevalence of the classic form of the disease is 1:12.000 in the Netherlands. Non-classic 21-hydroxylase deficiency is more frequent, presenting with signs of androgen excess from childhood through to adulthood. Treatment of CAH consists of hormonal replacement and surgical correction in case of congenital virilisation in girls. Long-term treatment results, including height at adulthood, have improved over the last decades. Nevertheless, fertility problems can occur in both sexes.
先天性肾上腺皮质增生症（CAH）是一种肾上腺类固醇合成障碍性疾病。在95%的CAH病例中，它是由21-羟化酶缺乏引起的，导致皮质醇缺乏以及（在大多数情况下）醛固酮缺乏。垂体分泌促肾上腺皮质激素（ACTH）的代偿性增加会刺激肾上腺，从而导致雄激素过量产生。由于受影响女孩出现先天性男性化，经典型CAH广为人知。然而，皮质醇和醛固酮缺乏在男女两性中至少同样重要，因为它可在出生后的头几周内引发肾上腺危象。出于这些原因，荷兰已推行新生儿CAH筛查项目。筛查可实现早期检测和治疗。在荷兰，该疾病经典型的患病率为1:12000。非经典型21-羟化酶缺乏更为常见，从儿童期到成年期均表现出雄激素过多的体征。CAH的治疗包括激素替代治疗，对于女孩先天性男性化的情况还包括手术矫正。在过去几十年中，长期治疗效果，包括成年后的身高，已有改善。然而，两性都可能出现生育问题。
