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Klinefelters SyndromeNawras Al Halabinawras@me.com

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Syndrome definitionIn 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.

What is Klinefelters 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 births47,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.

HistoryThe 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 1950s, researches discovered that these men had an extra sex chromosome thus having the pattern XXYPervious name: Seminiferous tubule dysgenesis was no longer used.

EtiologyMeiotic nondisjunction of chromosome pairs during the first or second division of gametogenesisMitotic nondisjunction on the developing zygoteIts a random event during the formation of reproductive cells

Possible nondisjunction events leading to Klinefelters Syndrome.

VariationsMales with Klinefelter syndrome may have a mosaic 47,XXY/46,XY.48,XXYY and 48,XXXY occur in 1 in 18,00050,000 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

DiagnosisAbout 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.

Signs and symptomsThere 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.

Lifestyle with KS patientsAs a Baby, Child, and Teen:May sit up, crawl, and walk later than other infants. Weaker musclesReduced strengthThey tend to be taller than average as they grow upThey may have less muscle control and coordination.Entering puberty, these males dont make as much testosterone.

Lifestyle with KS patientsMental: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.

Signs and symptomsAdulthood:Tall body stature and increased lenght of extremities and Narrow sholdersDecreased facial and body hair (Produce much less testosterone)Increased FSH, LH and normal/decreased testosterone levelsGynecomastia (increase in breast tissue)Increase of fatty tissue especially in abdomen and pelvisAtrophic testicular volume: 2-3 mlDecreased IQ levelsOsteoporosisIncreased risk of breast cancer, autoimmune disorders, hypothyroidism

A person with typical untreated (surgery/hormones) Klinefelter 46,XY/47,XXY mosaic

TreatmentThe genetic variation is irreversible, we treat the sings and symptoms with:Cosmetic surgery gynecomastia (increase in breast tissue).Males with Klinefelters 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.

SpermatogenesisMosaic KS (46,XY/47,XXY) usually severe oligozoospermic. Azoospermia can be present in some mosaic KS patients.

Men with non-mosaic KS usually azoospermic

KS Patients FertilityMicro TESE is a successful retrieval technique for patients with KS The recovery rate can be change with age, the average rate is %50-55After 35 years of age sperm recovery dramatically decreaseThe pregnancy rate was similar (45%) to karyotypically normal NOA patientsAll babies have normal chromosome constractionPGD should be advise and discuss with the couples before the ICSI treatment

Sperm RecoveryTesticular sperm extraction (TESE)

Sperm RecoveryMicro TESE

Sperm RecoveryTESA

Intra Cytoplasmic Sperm Injection (ICSI)

Intra Cytoplasmic Sperm Injection (ICSI)

Embryo Transfer

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD)

People living with klinefelterCaroline 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.

People living with klinefelterLili ElbeElbe allegedly had Klinefelters.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 Ebershoffs best seller, The Danish Girl.

XXY Movie (2007)XXY is a 2007 Argentine-Spanish-French drama film written and directed by Luca Puenzo. Starring Ricardo Darn, Valeria Bertuccelli, Ins Efron, and Martn 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.