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Constitutional delay of 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

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 constitutional 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
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

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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