Delayed puberty differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Eiman Ghaffarpasand, M.D. [2]

Overview

Delayed puberty 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 Turner's syndrome, Klinefelter's syndrome, and Noonan's syndrome.

Differentiating Delayed puberty from other diseases

• Delayed puberty 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 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
Delayed puberty	Primary hypogonadism	↑	↑	↑	↓	↓	+	+	-	↓	-
	Secondary hypogonadism	↓	↓	↓	↓	↓	+	+	-	↓	-
Constitutional delay of puberty		Normal	Normal	Normal	Normal	Normal	+	+	-	Normal	• Normal puberty, finally
Hypopituitarism		↑	↓	↓	↓	↓	+	+	-	↓	-
Turner's syndrome		↓	↑	↑	↓	-	+	+	+	↓	• Bicuspid aortic valve
Klinefelter's syndrome		↓	↑	↑	-	↓	+	-	-	Normal	• Testicular dysgenesis
Noonan's syndrome		↓	↑	↑	-	↓	+	-	+	Normal	• Mitral valve prolapse
Outflow tract obstruction (imperforate hymen or transverse vaginal septum)		Normal	Normal	Normal	Normal	Normal	-	+	-	Normal	• Imperforate hymen • Perirectal mass • Bulging hymen with hematocolpos
Mayer-Rokitansky-Kuster-Hauser syndrome		Normal	Normal	Normal	Normal	Normal	-	+	-	Normal	• Variable absence of Mullerian structures in pelvic ultrasound

References

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