Turners syndrom

Engelsk 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.

Svenska synonymer

Inga svenska synonymer finns.

Engelska synonymer

Ullrich-Turner Syndrome — Syndrome, Ullrich-Turner — Ullrich Turner Syndrome — Turner's Syndrome — Turners Syndrome — Gonadal Dysgenesis, 45,X — Gonadal Dysgenesis, XO — XO Gonadal Dysgenesis — Monosomy X — Bonnevie-Ullrich Syndrome — Bonnevie Ullrich Syndrome — Status Bonnevie-Ullrich — Status Bonnevie Ullrich