Extremely rare hereditary disease: " girl " 16 years old It is man's body in fact

Extremely rare hereditary disease: " girl " 16 years old It is man's body in fact
Extremely rare hereditary disease: " girl " 16 years old It is man's body in fact
16 years old for one " The girl " ,Because the second sex character has not developed to come to Shandong University children's hospital in Shandong to seek medical advice, expert in diagnosing the diseases carry on the intersection of chromosome and core type check for it, find the intersection of chromosome and core type of girl correspond to girl. The doctor says, this kind of disease calls the male pseudohermaphrodism, is called " male sex hormone insensitive syndrome " too ,This kind of hereditary disease is extremely rare, the morbidity is only 1/64000. It is reported, patient's appearance and behavior have women's characteristics. General girls have been mostly already in the period in 16 s, but patients do not have, and breast development is inferior to is the same as a age girl. Family feel abnormal, then take children to go to see doctor. Expert in diagnosing the diseases the intersection of horse and beautiful rosy clouds check, find breast of patient development unripe, the vulva is inmature, check to reveal a patient has no uteruses and ovaries in supersound. Through making chromosome core type to analyze to their, the result reveals patient's chromosome core type is 46, XY, according to chromosome core type, it should be a male phenotype. Hold a consultation through many experts, diagnose it suffers from " male sex hormone insensitive syndrome " due to gene mutation of chromosome . Do not " have effective treatment means to this disease yet at present " ,Ma LiXia says. Ma LiXia tells reporters, this institute has already found 47 unusual cases of chromosome since 2010, sex chromosome is unusual 11 among them. As to this, she especially reminds parents, to having obvious development delaying, short and small children, especially the girl in adolescence, should make chromosome core type to analyze, can assist the doctor to make a definite diagnosis of the cause of disease, guarantee the clinical treatment to the ill in time. (HuaiLian Wang Ling Wang of Jinan Daily)


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