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Delayed puberty differential diagnosis

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

Overview

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

Differentiating Delayed puberty from other diseases

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

References

  1. ↑ Blondell RD, Foster MB, Dave KC (1999). “Disorders of puberty”. Am Fam Physician. 60 (1): 209–18, 223–4. PMID 10414639.

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