STATUS BONNEVIE ULLRICH
\stˈe͡ɪtəs bˈɒnɛvi ˈʌlɹɪt͡ʃ], \stˈeɪtəs bˈɒnɛvi ˈʌlɹɪtʃ], \s_t_ˈeɪ_t_ə_s b_ˈɒ_n_ɛ_v_i_ ˈʌ_l_ɹ_ɪ_tʃ]\
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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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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.