A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement
A novel single base deletion at codon 434 (1301delT) of the DAX1 gene associated with prepubertal testis enlargement
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DOI：
10.1016/s1096-7192(02)00198-1
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发表时间：
2003-01-01
影响因子：
3.8
通讯作者：
Jameson, JL
中科院分区：
文献类型：
--
作者：
Argente, J;Ozisik, G;Jameson, JL
我们在一例原发性肾上腺皮质功能不全患者中发现了一种新的DAX 1移码突变（1301 delT）。这名出生1天的男婴因低钠血症、高钾血症和疑似先天性肾上腺异常入院。他表现出重度低血糖、皮肤苍白、颊和生殖器色素沉着过度、低血压（90/45 mm Hg）、贫血和腹泻。尽管基础促性腺激素水平较低，对外源性GnRH的反应也很小，但他的睾丸大小在4岁时开始增加，在9岁零8个月时达到4.5 mL。睾酮水平为青春期前水平。这些研究结果进一步强调了DAX 1基因突变儿童的临床表现，并指出了原发性肾上腺皮质功能不全男孩基因检测的价值。(C)2002 Elsevier Science（美国）。All rights reserved.
We have identified a novel DAX1 frameshift mutation (1301delT) at codon 434 in a patient with primary adrenal insufficiency. This I I-day-old boy was admitted to the hospital with hyponatremia, hyperkalemia, and suspected congenital adrenal abnormality. He exhibited severe hypoglycemia, pallor of the skin, buccal and genital hyperpigmentation, hypotension (90/45 mm Hg), anemia, and diarrhea. Although basal gonadotropins were low, and responded minimally to exogenous GnRH, the size of his testes began to increase at age 4 and reached 4.5 mL at the age of 9 years and 8 months. Testosterone levels were prepubertal. These findings further emphasize the variable clinical presentation in children with DAX1 gene mutations and indicate the value of genetic testing in boys with primary adrenal insufficiency. (C) 2002 Elsevier Science (USA). All rights reserved.