TURNERS SYNDROME
\tˈɜːnəz sˈɪndɹə͡ʊm], \tˈɜːnəz sˈɪndɹəʊm], \t_ˈɜː_n_ə_z s_ˈɪ_n_d_ɹ_əʊ_m]\
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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.
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