GONADAL DYSGENESIS, 45,X
\ɡˈɒne͡ɪdə͡l dɪsd͡ʒˈɛnɪsˌɪs], \ɡˈɒneɪdəl dɪsdʒˈɛnɪsˌɪs], \ɡ_ˈɒ_n_eɪ_d_əl d_ɪ_s_dʒ_ˈɛ_n_ɪ_s_ˌɪ_s]\
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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.
By DataStellar Co., Ltd
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Elizabeth Sara Sheppard
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