脂质先天性肾上腺增生(LCAH)是一种罕见且严重的疾病,由类固醇急性调节蛋白(StAR)的突变引起。非经典LCAH被定义为46,XY个体的晚发性糖皮质激素缺乏症,甚至完全的男性外生殖器。然而,到目前为止,很少有非经典LCAH的报道。
尝试以发病年龄来描述具有完整男性外生殖器的男性儿童的临床特征,肾上腺功能,和生化指标。还回顾了先前报道的病例,以研究非经典LCAH中发病年龄与酶活性的关系。
患有完整的男性外生殖器的患者被诊断为非经典LCAH,其中他在1.25岁时转诊到当地医院的原因是进行性皮肤色素沉着过度,血浆促肾上腺皮质激素(ACTH)水平升高至1,250pg/ml以上。通过遗传测试鉴定了STAR基因中的复合杂合突变c.772C>T/c.562C>T。文献综述从36个家庭中鉴定出47例非经典LCAH患者。突变分析表明,c.562C>T突变在非经典LCAH患者中普遍存在,占突变等位基因总数的37.2%,这可以反映创始人对非经典LCAH人群的影响。总的来说,报告2846,XY患者,包括22例(78.5%)完整的男性外生殖器和6例(21.5%)不同程度尿道下裂。
非经典LCAH的临床表型是高度可变的。常规体检,实验室测量,基因检测,and,重要的是,酶活性测定可能有助于非经典LCAH的早期诊断。原发性肾上腺功能不全(PAI)发病的年龄可能不是非经典LCAH的诊断依据。和酶活性测定可能更有效。
Lipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). Non-classic LCAH is defined as late-onset glucocorticoid deficiency and even complete male external genitalia in 46,XY individuals. However, to date, few cases of non-classic LCAH have been reported.
It was attempted to describe the clinical characteristics of a male child with complete male external genitalia in terms of age of onset, adrenal function, and biochemical indicators. Previously reported cases were also reviewed to investigate the relationship of age of onset with enzymatic activity in non-classic LCAH.
The patient with complete male external genitalia was diagnosed with non-classic LCAH, in which the reason for his referral to a local hospital at the of age 1.25 years was progressive skin hyperpigmentation, and plasma adrenocorticotropic hormone (ACTH) level was elevated to higher than 1,250 pg/ml. The compound heterozygous mutations c.772C>T/c.562C>T in STAR gene were identified via genetic testing. The literature review resulted in identification of 47 patients with non-classic LCAH from 36 families. The mutational analysis showed that c.562C>T mutation was prevalent in patients with non-classic LCAH, accounting for 37.2% of the total mutant alleles, which could reflect the founder effect on the non-classic LCAH population. In total, 28 46,XY patients were reported, including 22 (78.5%) cases with complete male external genitalia and six (21.5%) cases with different degrees of hypospadias.
The clinical phenotypes of non-classic LCAH are highly variable. Routine physical examination, laboratory measurement, genetic testing, and, importantly, enzymatic activity assay may facilitate the early diagnosis of non-classic LCAH. The age of primary adrenal insufficiency (PAI) onset may not be a diagnostic basis for non-classic LCAH, and enzymatic activity assay determination may be more effective.