Klinefelter syndrome Disease

About Gene:

A patient with Klinefelter syndrome is born with an additional X chromosome. This syndrome is typically observed in the male sex.

Number of Patients: 0

Disease Causing Genes:

AR ESR1 SERPINE1 ESR2 FGFR3 IKBKG GPER1 GAS5 INHBA INSL3 KIF2C NPPC FSHB AZF1 AURKC MT-ND6 USP26 LDOC1 SOX13

Sign and Symptoms:

  1. Thrombosis
  2. Metabolic syndrom
  3. Osteoporosis
  4. Epilepsy
  5. Mental retardation
  6. Delayed verbal development and language disorders
  7. Low testosterone
  8. A marked increase in serum Follicular stimulating hormone (FSH) levels
  9. elevated luteinizing LH values
  10. gynaecomastia
  11. eunuchoid skeleton
  12. sexual dysfunction
  13. small penis
  14. delayed development of secondary sex characteristics

Diagnosis:

(1) Karyotype test

Preventions:

Genetic counseling

Treatment:

- hormonal treatment - replacement therapy with testosterone supplementation