Turner syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, and chromosomal abnormalities. Chromosomal abnormalities are delayed puberty, and Noonan's syndrome.

Differentiating Delayed puberty from other diseases

• Turner's syndrome must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as constitutional delay of puberty, hypopituitarism, and chromosomal abnormalities. Chromosomal abnormalities are delayed puberty, and Noonan's syndrome.

Diseases		Laboratory Findings					Physical examinations				Other Findings
		GnRH	LH	FSH	Estradiol	Testosterone	Lack of secondary sexual characteristics	Amenorrhea	Webbed neck	Final height
Turner's syndrome		↓	↑	↑	↓	-	+	+	+	↓	Bicuspid aortic valve
Delayed puberty	Primary hypogonadism	↑	↑	↑	↓	↓	+	+	-	↓	-
	Secondary hypogonadism	↓	↓	↓	↓	↓	+	+	-	↓	-
Constitutional delay of puberty		Nl	Nl	Nl	Nl	Nl	+	+	-	Nl	Normal puberty, finally
Hypopituitarism		↑	↓	↓	↓	↓	+	+	-	↓	-
Noonan's syndrome		↓	↑	↑	-	↓	+	-	+	Nl	Mitral valve prolapse
Outflow tract obstruction (imperforate hymen or transverse vaginal septum)		Nl	Nl	Nl	Nl	Nl	-	+	-	Nl	Imperforate hymen Perirectal mass Bulging hymen with hematocolpos
Mayer-Rokitansky-Kuster-Hauser syndrome		Nl	Nl	Nl	Nl	Nl	-	+	-	Nl	Variable absence of Mullerian structures in pelvic ultrasound

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