Turner Syndrome
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.
Year introduced: 2002(1963)
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Subheadings:
Tree Number(s): C12.050.351.875.253.309.872, C12.050.351.875.253.795.750, C12.200.706.316.309.872, C12.200.706.316.795.750, C12.800.316.309.872, C12.800.316.795.750, C14.240.400.980, C14.280.400.980, C16.131.240.400.970, C16.131.260.830.835.750, C16.131.939.316.309.872, C16.131.939.316.795.750, C16.320.180.830.835.750, C19.391.119.309.872, C19.391.119.795.750
MeSH Unique ID: D014424
Entry Terms:
- Turner's Syndrome
- Turners Syndrome
- Ullrich-Turner Syndrome
- Syndrome, Ullrich-Turner
- Ullrich Turner Syndrome
- Bonnevie-Ullrich Syndrome
- Bonnevie Ullrich Syndrome
- Status Bonnevie-Ullrich
- Status Bonnevie Ullrich
- Gonadal Dysgenesis, 45,X
- Gonadal Dysgenesis, XO
- XO Gonadal Dysgenesis
- Monosomy X
See Also: