先天性肾上腺皮质增生症(17α-羟化酶缺乏)伴有肾上腺髓质脂肪瘤一家系报道并文献复习
Adrenal myelolipoma with congenital 17a-hydroxylase deficiency: a pedigree report and review of the literature
目的 分析先天性肾上腺皮质增生症(CAH)伴肾上腺髓质脂肪瘤(AML)的临床及病理特点,提高对CAH的认识.方法 分析一CAH家系的P450c 17(CYP17)基因,及其家系中3姐妹CAH合并肾上腺髓质脂肪瘤的临床及病理特点,并对国外报道文献进行复习总结.结果 (1)该家系中3姐妹CYP17基因第6号外显子1178位碱基A→T的杂合点突变,且第8号外显子1 457-1 465 TCGACTCTr这9个碱基缺失突变.(2)三姐妹均有高血压、低血钾、原发性闭经和性腺发育不良的临床表现.确诊CAH后均未规律治疗,长期高ACTH血症,出现AML.结论 CAH合并AML确切的机制尚不清楚,但长期高ACTH血症在AML的形成中起了重要作用,因此CAH患者需要长期正规治疗.
更多Objective To analyse the clinical and pathological characteristics of congenital adrenal hyperplasia (CAH) with adrenal myelolipoma (AML),and to improve the awareness of CAH.Methods The P450c17a gene in a pedigree with CAH and the clinical and pathological characteristics of three sisters of the pedigree with CAH and adrenal myelolipoma were studied;and the pertinent literatures reported abroad were analyzed and summarized.Results (1) A heterozygous point mutation 1178 base A to T in exon 6,and a heterozygous deletion mutation 1 457-1 465 bases TCGACTCTT of exon 8 were detected in P450c17 (CYP17) gene of three sisters of the pedigree with CAH.(2) The clinical characteristics of three sisters were hypertension,hypokalemia,primary amenorrhea,and gonadal dysgenesis.Without regular treatment after the diagnosis of CAH,the three sisters experienced many years of elevated serum ACTH levels,and developed AML.Conclusion The long-term high ACTH level plays an important role in the development of AML,although the exact mechanism of CAH with adrenal myelolipoma remains still unclear.CAH patients require long-term regular treatment.
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