Klinefelter Syndrome ( Male with some female characteristics)

KLINEFELTER SYNDROME
          A chromosomal condition (Non Dysjunction of X chromosome during meiosis)that affects male physical and cognitive development, results from presence of one or two extra 'X' Chromosomes.Also called as XXY(47xxy)Syndrome.

Karyotype 
This syndrome is a chromosomal-sexual disorder most common with an rate of 1 in 500 males, with prevalence of any ethnic group and is characterized by significant testicular dysfunction, azoospermia, gynecomastia, decreased libido, increased plasma gonadotropins in males with two or more chromosome X

Causes: 

•  The presence of an extra X chromosome in males most often occurs when the genetic material in the egg splits unevenly. But it can also occur when the genetic material in the sperm splits unevenly
• Even though Klinefelter syndrome is a genetic disorder, it is not passed down through families( Not hereditary).

• Occurs only as a result of a random genetic error after conception. 

Signs & Symptoms:

• Weaker muscles and reduced strength
• Males willl have less facial and body hair, and broader hips
• XXY males may develop breast tissue and
• Weaker bones, and a lower energy level than other males
• Affected males are often infertile, or may have reduced fertility
• Delayed Puberty

• Low serum testosterone level but high serum follicle-stimulating hormone (FSH) and luteinizing hormone(LH) levels 

Dental And Facial Manifestations 

• Skeletal Disproportion
• Mandibular Prognathism
• Taurodontism ( Bull Tooth )
• Hypertelorism,Strabismus
• Upward slant of the Palpabral fissure 
• Cleft Palate

Other Manifestations includes Cognitive and developmental deficiencies

Diagnosis 

⧫ Usually in the late adulthood when patient fail to develope sufficient  secondary sexual characteristics
⧫ Only 10% of Klinefelter cases are found by Prenatally through genetic tests on cells collected from amniocentesis or chorionic villus sampling (CVS)
⧫ Others Based on Past History and Genetic Karyotyping
⧫ About 64% individuals are never recognized
Treartment
→ Supportive therapy
→ Testosterone replacement
→ Speech therapy and educational support can help boys who have language or learning problems
→ Interceptive Orthodontics