Constitutional delay of puberty differential diagnosis

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

Constitutional delay of puberty Microchapters
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Differentiating Constitutional delay of puberty from other Diseases
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Overview

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

Differentiating Delayed puberty from other diseases

• Constitutional delay of puberty must be differentiated from other diseases that cause latency in secondary sexual characteristics development, such as delayed puberty, hypopituitarism, and chromosomal abnormalities. Chromosomal abnormalities are Turner's syndrome, Klinefelter's syndrome, 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
Constitutional delay of puberty		Nl	Nl	Nl	Nl	Nl	+	+	-	Nl	Normal puberty, finally
Delayed puberty	Primary hypogonadism	↑	↑	↑	↓	↓	+	+	-	↓	-
	Secondary hypogonadism	↓	↓	↓	↓	↓	+	+	-	↓	-
Hypopituitarism		↑	↓	↓	↓	↓	+	+	-	↓	-
Turner's syndrome		↓	↑	↑	↓	-	+	+	+	↓	Bicuspid aortic valve
Klinefelter's syndrome		↓	↑	↑	-	↓	+	-	-	Nl	Testicular dysgenesis
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