Adrenal myelolipoma with congenital 17a-hydroxylase deficiency: a pedigree report and review of the literature
10.3760/cma.j.issn.1000-6699.2015.03.010
- VernacularTitle: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
- Author:
Min ZHANG
;
Tianyan ZHANG
;
Xin ZHU
;
Changle ZHU
;
Hong HUANG
;
Wei CHEN
;
Yun HU
- Publication Type:Journal Article
- Keywords:
Congenital adrenal hyperplasia;
17α-hydroxylase deficiency;
Adrenal myelolipoma
- From:
Chinese Journal of Endocrinology and Metabolism
2015;31(3):238-242
- CountryChina
- Language:Chinese
-
Abstract:
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.
