Turners Syndrome

《英文msh詞典》Turners Syndrome
[入口詞] Turners Syndrome
[主題詞] Turner Syndrome
[英文釋義] A syndrome of defective gonadal development in phenotypic women with a karyotype of sex chromosome monosomy (45,X or 45,XO),associated with the loss of a sex chromosome X or Y. Patients generally are of short stature with undifferentiated (streak) gonads,sexual infantilism (HYPOGONADISM),webbing of the neck,cubitus valgus,elevated GONADOTROPINS (LH and FOLLICLE STIMULATING HORMONE) and decreased ESTRADIOL level in blood. Studies of Turner Syndrome and its variants have contributed significantly to the understanding of SEX DIFFERENTIATION. NOONAN SYNDROME bears similarity to this disorder; however,it also occurs in males,has normal karyotype,and is inherited as an autosomal dominant.