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Klinefelter’s Syndrome

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Published on

07-08-2013
Faculty of medicine of Syrian Private University.
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متلازمة كلاينفلتر وتقانات أطفال الأنابيب
.كلية الطب البشري في الجامعة السورية الخاصة

Published in: Healthcare

Klinefelter’s Syndrome

  1. 1. Klinefelter’s Syndrome Nawras Al Halabi nawras@me.com
  2. 2. Syndrome definition • In medicine and psychology, a syndrome is the association of several clinically recognizable features, signs (observed by someone other than the patient), symptoms (reported by the patient), phenomena or characteristics that often occur together, so that the presence of one or more features alerts the healthcare provider to the possible presence of the others.
  3. 3. What is Klinefelter’s syndrome? • A genetic disorder in which there is at least one extra X chromosome to a standard human male karyotype. • Frequency: roughly between 1:500 to 1:1000 live male births • 47,XXY is the most common sex chromosome aneuploidy in males and the second most common condition caused by the presence of extra chromosomes. Other mammals also have the XXY syndrome, including mice.
  4. 4. History • The syndrome was named after Harry F. Klinefelter. • In 1942, worked with Fuller Albright at Massachusetts General Hospital in Boston, Massachusetts and first described it in the same year. • Firstly described in 9 men: Infertility, gynecomastia, hypogonadism, elevated FSH, atrophic testis. • By the late 1950’s, researches discovered that these men had an extra sex chromosome thus having the pattern XXY • Pervious name: Seminiferous tubule dysgenesis was no longer used.
  5. 5. Etiology • Meiotic nondisjunction of chromosome pairs during the first or second division of gametogenesis • Mitotic nondisjunction on the developing zygote • It’s a random event during the formation of reproductive cells
  6. 6. Possible nondisjunction events leading to Klinefelter’s Syndrome.
  7. 7. Variations • Males with Klinefelter syndrome may have a mosaic 47,XXY/46,XY. • 48,XXYY and 48,XXXY occur in 1 in 18,000–50,000 male births. • 49,XXXXY is 1 in 85,000 to 100,000 male births. (Additional chromosomal material can contribute to cardiac, neurological, orthopedic and other anomalies.) • only about 10 cases have been described in literature of mosaicism 47,XXY/46,XX with clinical features suggestive of Klinefelter syndrome
  8. 8. Diagnosis • About 10% of Klinefelter cases are found by prenatal diagnosis. • About 25% received their diagnosis in late adulthood. • Often the diagnosis is made accidentally as a result of examinations and medical visits for reasons not linked to the condition. • The standard diagnostic method is the analysis of the chromosomes' karyotype on lymphocytes. • To confirm mosaicism, it is also possible to analyze the karyotype using dermal fibroblasts or testicular tissue.
  9. 9. 1% 10% 18% 20%21% 18% 12% Percentages of Klinefelter's diagnosis divided by age groups (most diagnoses occurring in adulthood) 0-9 years 10-19 years 20-29 years 30-39 years 40-49 years 50-59 years 60-69 years
  10. 10. Signs and symptoms • There are many variances within the XXY population, just as within the 46,XY population. It is possible to characterize XXY males with body types and physical characteristics. • The only reliable method of identification is karyotype testing.
  11. 11. Lifestyle with KS patients As a Baby, Child, and Teen: • May sit up, crawl, and walk later than other infants. • Weaker muscles • Reduced strength • They tend to be taller than average as they grow up • They may have less muscle control and coordination. • Entering puberty, these males don’t make as much testosterone.
  12. 12. Lifestyle with KS patients Mental: • Speech/language deficits, learning disabilities/academic issues and/or behavioral issues. • Tend to be quiet and undemanding. • Delays in language acquisition and development: Children with Klinefelter syndrome have the greatest difficulty with expressive language, which is the ability to put thoughts, ideas, and emotions into words. • They can face problems during adolescence: emotional and behavioural, and difficulties at school. • Most of them can achieve full independence from their families in adulthood witch can lead a normal, healthy life.
  13. 13. Signs and symptoms Adulthood: • Tall body stature and increased lenght of extremities and Narrow sholders • Decreased facial and body hair (Produce much less testosterone) • Increased FSH, LH and normal/decreased testosterone levels • Gynecomastia (increase in breast tissue) • Increase of fatty tissue especially in abdomen and pelvis • Atrophic testicular volume: 2-3 ml • Decreased IQ levels • Osteoporosis • Increased risk of breast cancer, autoimmune disorders, hypothyroidism
  14. 14. A person with typical untreated (surgery/hormones) Klinefelter 46,XY/47,XXY mosaic
  15. 15. Treatment The genetic variation is irreversible, we treat the sings and symptoms with: • Cosmetic surgery gynecomastia (increase in breast tissue). • Males with Klinefelter’s Syndrome can be given testosterone therapy, If given around the age of puberty, it can help a boy have normal body development. • Planned and timed psychosocial support should be provided for young men with Klinefelter syndrome to ameliorate current poor psychosocial outcomes. • IVF technologies to help father children.
  16. 16. Spermatogenesis • Mosaic KS (46,XY/47,XXY) usually severe oligozoospermic. Azoospermia can be present in some mosaic KS patients. • Men with non-mosaic KS usually azoospermic
  17. 17. KS Patients Fertility • Micro TESE is a successful retrieval technique for patients with KS • The recovery rate can be change with age, the average rate is %50-55 • After 35 years of age sperm recovery dramatically decrease • The pregnancy rate was similar (45%) to karyotypically normal NOA patients • All babies have normal chromosome constraction • PGD should be advise and discuss with the couples before the ICSI treatment
  18. 18. Sperm Recovery Testicular sperm extraction (TESE)
  19. 19. Sperm Recovery Micro TESE
  20. 20. Sperm Recovery TESA
  21. 21. Intra Cytoplasmic Sperm Injection (ICSI)
  22. 22. Intra Cytoplasmic Sperm Injection (ICSI)
  23. 23. Embryo Transfer
  24. 24. Pre-implantation Genetic Diagnosis (PGD)
  25. 25. Pre-implantation Genetic Diagnosis (PGD)
  26. 26. Pre-implantation Genetic Diagnosis (PGD)
  27. 27. People living with klinefelter Caroline Cossey (XXXY) • Cossey was raised as a boy, but changed lifestyle to live as a girl. • She became a famous model. • She underwent sex- reassignment surgery. • Cossey was a James Bond girl in the movie “For Your Eyes Only.”
  28. 28. People living with klinefelter Lili Elbe • Elbe allegedly had Klinefelter’s. • She was one of the first identifiable recipients of male to female sex reassignment surgery. • Elbe was a fashion model. • She was transsexual and underwent experimental surgeries, her first surgery was orchiectomy (removal of testicles). • Elbe was written about in David Ebershoff’s best seller, The Danish Girl.
  29. 29. XXY Movie (2007) • XXY is a 2007 Argentine-Spanish- French drama film written and directed by Lucía Puenzo. Starring Ricardo Darín, Valeria Bertuccelli, Inés Efron, and Martín Piroyansky, the film tells the story of a 15-year- old intersex person, the way her family copes with her condition and the ultimate decision that she must eventually make as she finds her gender identity.

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