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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Differentiating Klinefelter's Syndrome from other Diseases

Introduction

Overview

Overview

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

Differentiating Klinefelter’s syndrome from other diseases

Differentiating Klinefelter’s syndrome 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
Klinefelter’s syndrome ↓ ↑ ↑ – ↓ + – – Nl Testicular dysgenesis
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
References

References

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