Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by various abnormalities in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a critical role in male sexual differentiation and development and preservation of the male phenotype. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male has some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, partial or mild. Here, we report 2 cases of complete AIS in young children who showed complete sex reversal from male to female as a result of AR mutations. They had palpable inguinal masses and normal female external genitalia, a blind-end vagina and absent Müllerian duct derivatives. They were both 46,XY karyotype and AR gene analysis demonstrated pathologic mutations in both. Because AIS is inherited in an X-linked recessive manner, we performed genetic analysis of the female family members of each patient and found the same mutation in the mothers of both patients and in the female sibling of case 2. Gonadectomy was performed in both patients to avoid the risk of malignancy in the undescended testicles, and estrogen replacement therapy is planned for their adolescence. Individuals with complete AIS are usually raised as females and need appropriate care.

The Change of Plasma Concentrations of Fibrinogen Degradation Products and Fibrin Degradation Products During the Open Heart Surgery / 대한마취과학회지

There were many researches, which qualitative or quantitative assays were performed about fibrinolysis and the degree of activation of coagulation system. Authors measured fibrinogen degradation products(FbDP) and fibrin degradation products(FbDP) by monoclonal enzymeimmunoassay, instead of polyclonal method in 12 cases of cardiopulmonary bypass(CPB). 1) The increase of FgDP after sternotomy is verifying the significant fibrino(geno) lysis occured by stimulation of sternotomy. 2) By the result that FgDP was significantly increased compared with FbDP, primary fibrinogenolysis is more important phenomenon than secondary fibrinolysis during CPB. 3) FbDP and FgDP were most significantly increased immediately before the end of CPB and after CPB. 4) Increased FgDP was decreased after CPB but FbDP was still elevated 5 hours after CPB. According to the above results, CPB induced primary fibrinogenolysis and secondary fibrinolysis in open heart surgery.