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A Case of Klinefelter's Syndrome

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A Case of Klinefelter's Syndrome

  1. 1. Prof. Dr.S.RAMASAMY, Dr. A.Prakash, PG,
  2. 2. <ul><li>A 27 year old male, Mr.Vinoth, coming from TP chathram, manual labourer by ocupation, with </li></ul><ul><li>c/o sparse facial hair growth </li></ul>
  3. 5. HOPI <ul><li>Sparse facial hair growth </li></ul><ul><li>Decreased axillary, pubic hair growth </li></ul><ul><li>h/o reduced testicular development + </li></ul><ul><li>h/o breast enlargement + </li></ul><ul><li>h/o feminine voice + </li></ul><ul><li>h/o learning difficulties + </li></ul>
  4. 6. <ul><li>No h/o penile deformity </li></ul><ul><li>No h/o difficulty in erection/ejaculation </li></ul><ul><li>No history s/o autoimmune condition such as </li></ul><ul><li>SLE/RA/Sjogrens </li></ul><ul><li>No h/o respiratory tract infection </li></ul><ul><li>No h/o arthritis/bony deformity </li></ul><ul><li>No h/o taurodontism </li></ul><ul><li>No h/o abdominal pain/distension </li></ul><ul><li>No h/o palpitation/dyspnoea </li></ul><ul><li>No h/o skin pigmentation </li></ul><ul><li>No h/o syncope/seizure disorders </li></ul><ul><li>No h/o chronic drug intake </li></ul><ul><li>No h/o visual disturbances </li></ul>
  5. 7. <ul><li>Past history </li></ul><ul><li>Operated for gynaecomastia b/l- 4 yrs back </li></ul><ul><li>No h/o HTN/DM/TB/BA/Seizure disorder </li></ul><ul><li>Personal history </li></ul><ul><li>Unmarried </li></ul><ul><li>Education upto 8 th standard, because of learning difficulties, discontinued his studies </li></ul><ul><li>Not an alcoholic/smoker </li></ul>
  6. 8. <ul><li>Family history </li></ul><ul><li>No h/o similar illness in the family </li></ul><ul><li>No h/o any chromosomal disorder in the family </li></ul><ul><li>Treatment history </li></ul><ul><li>Operated for gynaecomastia -4 yrs back </li></ul><ul><li>Taking Rx for the presenting complaints for past 1 year </li></ul>
  7. 9. <ul><li>Conscious oriented afebrile </li></ul><ul><li>No pallor/cyanosis/clubbing/icterus/PE/GLA </li></ul><ul><li>b/l gynaecomastia +, TRANSVERSE SURGERY SCAR BELOW AREOLA B/L </li></ul><ul><li>No facial hair growth </li></ul><ul><li>No syndactyly/polydactyly </li></ul><ul><li>Hydration adequate </li></ul><ul><li>Vitals: BP-110/80, PR-76, </li></ul>
  8. 10. <ul><li>CVS- S1 S2 +, no murmur </li></ul><ul><li>RS- NVBS +, no added sounds </li></ul><ul><li>P/A soft, no organomegaly, </li></ul><ul><li>Examination of genetalia- </li></ul><ul><li>SPARSE PUBIC HAIR </li></ul><ul><li>Testes- 2×1.5CM;small for age (Normal 4-7 cm) </li></ul><ul><li>Penis- 3cm, no deformities </li></ul>
  9. 11. Provisional diagnosis <ul><li>Chromosomal disorder </li></ul><ul><li>? Klinefelter syndrome </li></ul><ul><li>? Klinefelter variant </li></ul>
  10. 12. 14/02/10
  11. 13. INVESTIGATION
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  15. 17. <ul><li>Endocrinologist’s opinion obtained </li></ul><ul><li>Chromosomal anomaly/?klinefelter syndrome </li></ul><ul><li>Advised semen analysis, serum FSH, Serum testosterone, karyotyping, USG testes & biopsy </li></ul>14/02/10
  16. 18. <ul><li>Cardiologist’s opinion obtained </li></ul><ul><li>ECG-WNL </li></ul><ul><li>ECHO-NORMAL & NO EVIDENCE OF CHD </li></ul>14/02/10
  17. 20. <ul><li>TFT –WNL </li></ul><ul><li>ECG-NSR/WNL </li></ul>14/02/10
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  19. 22. Semen analysis <ul><li>Volume: 1ml (Normal>2ml) </li></ul><ul><li>pH: 7.5 (Normal: 7.2-7.8) </li></ul><ul><li>Concentration: 7×10 ^6/ml (>20) </li></ul><ul><li>Motility: 50% (>50%) </li></ul><ul><li>Morphology: 40% normal morphology (>30%) </li></ul><ul><li>WBC: <1×10 ^6 (n) </li></ul>14/02/10
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  25. 28. DIAGNOSIS <ul><li>KLINEFELTER SYNDROME-47XXY KARYOTYPE </li></ul>
  26. 29. Klinefelter syndrome <ul><li>MC sex aneuploidy in males </li></ul><ul><li>It is a disorder in which male infants born with an extra X chromosome </li></ul><ul><li>Incidence- 1/500 – 1/1000 newborn males </li></ul><ul><li>1% among the MR, 3% among the infertile males, 5-10% among oligospermia & azospermia </li></ul><ul><li>Chromosomal aberration mostly from meiotic nondysjunctions of X chromosome during parental gametogenesis </li></ul><ul><li>The extra X chromosome maternally in origin in 54%, paternal in origin in 46% (Nelson) </li></ul><ul><li>In adult men, the prevalence was only 40/100000, i.e., only 1 in 4 of adult males with klinefelter was diagnosed </li></ul>
  27. 30. <ul><li>MC chromosomal pattern is 47 XXY (80%) </li></ul><ul><li>Mosaic patterns 46XY/47XXY </li></ul><ul><li>46XY/48XXYY </li></ul><ul><li>45X/46XY/47XXY </li></ul><ul><li>46XX/47XXY </li></ul><ul><li>Variant 48XXXY </li></ul><ul><li>49XXXYY </li></ul><ul><li>50XXXXYY </li></ul><ul><li>47XXY/48XXXY </li></ul><ul><li>47XXY/49XXXXY </li></ul><ul><li>48XXYY </li></ul><ul><li>Advanced maternal age slightly increases the risk for XXY chromosome </li></ul>
  28. 31. Clinical features <ul><li>The condition should be considered in all boys with MR & in children with psychosocial learning or school adjustment problems </li></ul><ul><li>Children may be anxious, immature, excessively shy, aggressive, may engaged in antisocial acts </li></ul><ul><li>Verbal I.Q.s being somewhat decreased </li></ul><ul><li>By late adolescent, learning disbilities usually language based </li></ul><ul><li>In high resolution MRI shows a reduction in left temporal lobe grey matter volume </li></ul><ul><li>Tall, slim, underweight, long legs, testes tend to be small for age </li></ul><ul><li>Cryptorchidism or hypospadiasis may occur in few patients </li></ul>
  29. 32. <ul><li>Adult: </li></ul><ul><li>Gynaecomastia, sparse facial hair, small testes (spermatogenic arrest, sertoli cells predominance) </li></ul><ul><li>Azoospermia, infertility common </li></ul><ul><li>Increased death usually due to DM, epilepsy, peripheral & intestinal vascular insufficiency, pulmonary embolism & renal disease </li></ul><ul><li>In variants, when the number of X chromosome exceed to the clinical manifestation including MR, impairment of virilizations are more severe </li></ul><ul><li>XXYY is the MC variant, 49 XXXXY hs the most severe manifestation like prenatal fetus had intrauterine growth retardation, edema </li></ul>
  30. 33. Diagnostic procedures <ul><li>Before birth- amniocentesis, CVS karyotypes </li></ul><ul><li>At adult- karyotyping, semen count, serum estradiol level, serum FSH level, serum LH, serum testosterone </li></ul><ul><li>Most males with this condition go through the life undiagnosed </li></ul><ul><li>The testes growth normal in the early in puberty, but by mid-puberty the testicular growth stops, Gonadotropis become elevated, it leads testosterone levels are slightly low </li></ul><ul><li>In this condition inhibin B normal in early puberty, decrease in late puberty, low in adult </li></ul><ul><li>Elevated level of estradiol resulting in a high estradiol-testosterone ratio leads to development of gynaecomastia in puberty </li></ul><ul><li>Long androgen receptor polyglutamine (CAG) repeat length is associated with the more severe phenotype manifestation </li></ul>
  31. 34. <ul><li>Testicular biopsy- before puberty only reveal deficiency or absence of germinal cells </li></ul><ul><li>After puberty reveal seminiferous tubular hyalinization & adenomatous clumping of leydig cells are established </li></ul><ul><li>Expectation the syndrome increases the risk of ADHD, autoimmune condition ,breast cancer, psychiatric illness, learning disabilities despite normal I.Q., lung disease, osteoporosis, taurodontism is very common in klinefelter syndrome </li></ul>
  32. 35. treatment <ul><li>Replacement therapy with long acting testosterone depends on age of patient, should begins at 11-12 years of age, the enanthate ester may be used in a starting dose of 25-50mg i.m. Every 3-4 weeks, with 50 mg increment every 6-9 months until a maintenance dose of adult (200-250mg every 3-4 weeks )is achieved </li></ul><ul><li>Testosterone patches or gel may be substituted for the injection </li></ul><ul><li>Testosterone therapy can help grow body hair, improve appearance of muscles, improve concentration, improve mood and self esteem, increase energy & sex drive, increase strength </li></ul>
  33. 36. <ul><li>THANK YOU </li></ul>14/02/10

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