叙利亚先天性肾上腺皮质增生症女性：病例系列。
Syrian females with congenital adrenal hyperplasia: a case series.
机构信息
Dept. of Biochemistry and Microbiology, Faculty of Pharmacy, Damascus University, Damascus, Syria.
Clinical Genetics Unit, Atomic Energy Commission of Syria (AECS), Damascus, Syria.
出版信息
J Med Case Rep. 2022 Oct 15;16(1):371. doi: 10.1186/s13256-022-03609-y.
BACKGROUND
One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing variable masculinization degrees of external genitalia in babies with a 46, XX karyotype.
CASES PRESENTATION
These five case reports highlight the management of Syrian females aged between 0 and 32 years with congenital adrenal hyperplasia. Two of the patients have been raised as males, while two had reconstructive surgery and one had hormonal therapy. Becoming mother was achieved by two patients CONCLUSION: The integrated treatment of females with classical congenital adrenal hyperplasia CAH, which includes appropriate surgical procedures and controlled hormonal therapy, gives these females the opportunity to live as they are, and perhaps as mothers in the future.
背景
最常见的先天性肾上腺皮质增生症之一是一种常染色体隐性疾病，伴有 21-羟化酶缺乏症。经典型定义为皮质醇不足，伴有产前雄激素过多，导致 46,XX 核型婴儿的外生殖器出现不同程度的男性化。
病例介绍
这五例病例报告重点介绍了对 0 至 32 岁叙利亚女性先天性肾上腺皮质增生症的治疗方法。其中两名患者被当作男性抚养，两名患者接受了重建手术，一名患者接受了激素治疗。有两名患者成功生育。
结论
对经典型先天性肾上腺皮质增生症 CAH 的女性进行综合治疗，包括适当的手术和控制激素治疗，使这些女性有机会按照自己的意愿生活，或许未来还有机会成为母亲。
Zotero 插件