Definition: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
in females; TURNER SYNDROME, MALE see NOONAN SYNDROME is also available
See AlsoNoonan Syndrome
Other names Gonadal Dysgenesis, XO; Gonadal Dysgenesis, 45,X; Bonnevie-Ullrich Syndrome; XO Gonadal Dysgenesis; Ullrich Turner Syndrome; Turners Syndrome; Syndrome, Ullrich-Turner; Status Bonnevie Ullrich; Bonnevie Ullrich Syndrome; Ullrich-Turner Syndrome; Turner's Syndrome; Status Bonnevie-Ullrich
