摘要
详细收集2例先天性类脂质性肾上腺皮质增生症（CLAH）患者的临床资料，并提取患者及其父母外周血白细胞基因组DNA，通过PCR扩增类固醇生成急性调节蛋白（STAR）基因，扩增产物纯化后直接测序。患者1为女性，2岁8个月，因“反复口唇紫绀2年余”就诊，体格检查未见明显色素沉着，阴蒂无肥大，Tanner分期B1P1。临床检查发现血ACTH1284．1pg／ml，17-羟孕酮0．54ng／ml，染色体核型为46，XX，基因分析显示其STAR基因存在C．201_202delCT和c．229C〉T复合杂合突变，父亲为c．201_202delCT杂合携带者，母亲为C．229C〉T杂合携带者；患者2为女性，22岁，因“皮肤发黑21年余”就诊，体格检查全身色素沉着，Tanner分期B5P2期，临床检查显示血ACTH〉2000pg/ml，血皮质醇0．77μg／dl，染色体核型46，XX，基因分析显示其STAR基因存在c．64＋1G〉C和c．707_708delinsCTT复合杂合突变，父母为相应的杂合携带者，其中c．64＋1G〉C为STAR基因的新突变。
The clinical features and laboratory data of two patients with congenital lipoid adrenal hyperplasia （CLAH） were collected. The genomie DNA was extracted from the peripheral blood white cells in the two patients and their family members and the STAR gene was screened for mutations by PCR and Sanger sequencing. Patient 1 was a girl aged 2 years and 8 months, and she visited us because of continual eyanosis for more than two years. Physical examination showed no obvious pigmentation or clitoral hypertrophy, and Tanner stage was B1P1. Clinical examination revealed serum ACTH 1 284. 1 pg/ml and 17α-hydoxyprogesterone （17-OHP） 0.54 ng/ml, with Karyotype 46, XX. Genetic analysis showed compound heterozygous mutations of c. 201 202delCT and c. 229C〉T in the STAR gene. Her father carried heterozygous e. 201 202delCT mutation, and her mother showed heterozygous c. 229C 〉T mutation. Patient 2 was a girl aged 22 years and referred to us because of dark skin for more than 21 years. Physical examination revealed generalized hyperpigmentation, with Tanner stage B5P2. Hormone examination showed ACTH 〉 2 000 pg/ml and serum cortisol 0.77 μg/dl. Karyotype analysis revealed 46, XX. Genetic analysis found compound heterozygous mutations of c. 64＋1G〉C and e. 707_708delinsCTr in the STAR gene, which descended from her father and mother respectively. Of note, c. 64＋ 1G〉C is a novel splicing mutation of STAR gene.
作者
杨祖威
蒋怡然
王德芬
陆文丽
王文萃
郑思畅
叶蕾
孙首悦
王卫庆
Yang Zuwei;Jiang Yiran;Wang Defen;Lu Wenli;Wang Wencui;Zheng Sichang;Ye Lei;Sun Shouyue;Wang Weiqing(Department of Endocrine and Metabolic Diseases, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai Institute of Endocrine and Metabolic Diseases, Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai 200025, Chin)
出处
《中华内分泌代谢杂志》
CAS
CSCD
北大核心
2018年第4期308-311,共4页
Chinese Journal of Endocrinology and Metabolism
基金
中华医学会临床医学科研专项资金--下丘脑垂体项目（13050930478）,上海市卫生和计划生育委员会科研课题（201540209）
