Kim Chan Jong
Department of Pediatrics, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Korea.
Ann Pediatr Endocrinol Metab. 2014 Dec;19(4):179-83. doi: 10.6065/apem.2014.19.4.179. Epub 2014 Dec 31.
Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most fatal form of CAH, as it disrupts adrenal and gonadal steroidogenesis. Most cases of lipoid CAH are caused by recessive mutations in the gene encoding steroidogenic acute regulatory protein (StAR). Affected patients typically present with signs of severe adrenal failure in early infancy and 46,XY genetic males are phenotypic females due to disrupted testicular androgen secretion. The StAR p.Q258X mutation accounts for about 70% of affected alleles in most patients of Japanese and Korean ancestry. However, it is more prevalent (92.3%) in the Korean population. Recently, some patients have been showed that they had late and mild clinical findings. These cases and studies constitute a new entity of 'nonclassic lipoid CAH'. The cholesterol side-chain cleavage enzyme, P450scc (CYP11A1), plays an essential role converting cholesterol to pregnenolone. Although progesterone production from the fetally derived placenta is necessary to maintain a pregnancy to term, some patients with P450scc mutations have recently been reported. P450scc mutations can also cause lipoid CAH and establish a recently recognized human endocrine disorder.
先天性类脂性肾上腺增生症（类脂性先天性肾上腺皮质增生症）是先天性肾上腺皮质增生症最致命的一种形式，因为它会干扰肾上腺和性腺的类固醇生成。大多数类脂性先天性肾上腺皮质增生症病例是由编码类固醇生成急性调节蛋白（StAR）的基因发生隐性突变引起的。受影响的患者通常在婴儿早期就出现严重肾上腺功能衰竭的症状，46,XY核型的男性由于睾丸雄激素分泌受阻而表现为女性表型。在大多数日本和韩国血统的患者中，StAR p.Q258X突变约占受影响等位基因的70%。然而，它在韩国人群中更为普遍（92.3%）。最近，一些患者表现出较晚且较轻的临床症状。这些病例和研究构成了一种新的“非经典类脂性先天性肾上腺皮质增生症”实体。胆固醇侧链裂解酶P450scc（CYP11A1）在将胆固醇转化为孕烯醇酮的过程中起着至关重要的作用。虽然胎儿来源的胎盘产生的孕酮对于维持妊娠至足月是必要的，但最近有报道称一些携带P450scc突变的患者。P450scc突变也可导致类脂性先天性肾上腺皮质增生症，并引发一种最近才被认识的人类内分泌疾病。
