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Klinefelter syndrome

Klinefelter syndrome: Introduction

A rare chromosomal genetic syndrome where the person has XXY chromosomes instead of XY or XX. The person is usually male because of the Y chromosome, but has lower levels of testosterone and may have some female-like features (because there are two X chromosomes). Sterility is a possible complication. The rarer subtype XXXY syndrome may lead to retardation. ...more »

Symptoms of Klinefelter syndrome

Treatments for Klinefelter syndrome

Home Diagnostic Testing

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Wrongly Diagnosed with Klinefelter syndrome?

Klinefelter syndrome: Related Patient Stories

Types of Klinefelter syndrome

Diagnostic Tests for Klinefelter syndrome

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Klinefelter syndrome: Complications

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Causes of Klinefelter syndrome

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Disease Topics Related To Klinefelter syndrome

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Klinefelter syndrome: Undiagnosed Conditions

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Misdiagnosis and Klinefelter syndrome

Misdiagnosed weight-related causes of infertility: A woman's weight status can affect her level of fertility. Although obesity or overweight can in...read more »

Klinefelter syndrome: Research Doctors & Specialists

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Hospitals & Clinics: Klinefelter syndrome

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Klinefelter syndrome: Rare Types

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Evidence Based Medicine Research for Klinefelter syndrome

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Klinefelter syndrome: Animations

Research about Klinefelter syndrome

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Clinical Trials for Klinefelter syndrome

The US based website ClinicalTrials.gov lists information on both federally and privately supported clinical trials using human volunteers.

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Statistics for Klinefelter syndrome

Klinefelter syndrome: Broader Related Topics

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Definitions of Klinefelter syndrome:

A common sex chromosomal anomaly in males characterized mainly by small testes with tubular hyalinization, azospermia with infertility, slight breast enlargement, elevated urinary gonadotropins, and decreased urinary 17-ketosteroids. Dull mentality has been noted. The affected individuals appear normal after birth, except for small testes. Most characteristic features become evident at adolescence as hypogonadism, gynecomastia, incomplete virilization with variable eunuchoidism, and dull mentality. Without testosterone therapy, most adult patients may become obese. Occasional abnormalities may include cryptorchidism, hypospadias, ataxia, scoliosis during adolescence, and diabetes mellitus in adulthood. - (Source - Diseases Database)

Syndrome in males that is characterized by small testes and long legs and enlarged breasts and reduced sperm production and mental retardation; a genetic defect in which an extra X chromosome (XXY) is present in the male - (Source - WordNet 2.1)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Klinefelter syndrome as a "rare disease".
Source - Orphanet

 

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