Medical terminology · Cardiology

Turner Syndrome

MeSH — National Library of Medicine · Retrieved 2026-10-13

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 th

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Reference details

MeSH descriptor
D014424
Vocabulary edition
2026
Tree positions
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

Scope and 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.

Entry terms and synonyms

Turner Syndrome 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

Classification tree positions

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

Sources and reuse

Medical vocabulary definition and classification record.
Retrieved: 2026-10-13. Text has been organized for reading; this import has not been independently reviewed by a clinician. It is not individualized medical advice.
Courtesy of the U.S. National Library of Medicine. DrugChat is independent and is not endorsed by NLM.

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