Turner syndrome

Turner syndrome (TS), dem commonly know as 45,X, anaa 45,X0, be a chromosomal disorder insyd wich cells of females get one X chromosome per instead of two, anaa e partially dey miss an X chromosome (sex chromosome monosomy) wey dey lead to de complete anaa partial deletion of de pseudoautosomal regions (PAR1, PAR2) insyd de affected X chromosome. Humans typically get two sex chromosomes, XX for females anaa XY for males. De chromosomal abnormality often be present insyd just sam cells, insyd wich case e be known as Turner syndrome plus mosaicism. 45,X0 plus mosaicism fi occur insyd males anaa females, buh Turner syndrome widout mosaicism dey occur insyd females per. Signs den symptoms dey vary among those wey be affected buh often dey include additional skin folds on de neck, arched palate, low-set ears, low hairline at de nape of de neck, short stature, den lymphedema of de hands den feet. Those wey be affected no dey normally develop menstrual periods anaa mammary glands widout hormone treatment wey dem be unable to reproduce widout assistive reproductive technology. Dem dey find small chin (micrognathia), loose folds of skin on de neck, slanted eyelids den prominent ears insyd Turner syndrome, though no be all go show am. Heart defects, Type II diabetes, den hypothyroidism dey occur insyd de disorder more frequently dan average. Chaw people plus Turner syndrome get normal intelligence; however, sam get problems plus spatial visualization wey fi hinder learning mathematics. Ptosis (droopy eyelids) d3n conductive hearing loss sanso dey occur more often dan average.

Turner syndrome be caused by one X chromosome (45,X), a ring X chromosome, 45,X/46,XX mosaicism, anaa a small piece of de Y chromosome insyd wat for be an X chromosome. Dem fi get a total of 45 chromosomes anaa dem no go develop menstrual periods secof loss of ovarian function genes. Dema karyotype often dey lack Barr bodies secof lack of a second X anaa dem fi get Xp deletions. E dey occur during formation of de reproductive cells insyd a parent anaa insyd early cell division during development. No environmental risks be known, den de mommie ein age dey play a role. While chaw people get 46 chromosomes, people plus Turner syndrome usually get 45 insyd sam anaa all cells. Insyd cases of mosaicism, de symptoms usually be fewer, den possibly none dey occur at all. Diagnosis be based on physical signs den genetic testing.

No cure for Turner syndrome be known. Treatment fi help plus symptoms. Human growth hormone injections during kiddie time fi increase adult height. Estrogen replacement therapy fi promote development of de breasts den hips. Medical care often be required to manage oda health problems plus wich Turner syndrome be associated.

Turner syndrome dey occur insyd between one insyd 2,000 den one insyd 5,000 females at birth. All regions of de world den cultures be affected about equally. Generally people plus Turner syndrome get a shorter life expectancy, mostly secof heart problems den diabetes. Na American endocrinologist Henry Turner first describe de condition insyd 1938. Insyd 1964, na dem determine e be secof a chromosomal abnormality.

 References 

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 External links 

 Turner Syndrome at the National Institute of Child Health and Human Development
 Endocrine and Metabolic Diseases Information Service

Category:Genodermatoses
Category:Growth disorders
Category:Rare syndromes
Category:Sex chromosome aneuploidies
Category:Syndromes wey dey affect stature
Category:Syndromes wey dey affect de heart
Category:Syndromes wey dey affect de kidneys
Category:Intersex variations
Category:Diseases dem name after discoverers
Category:Translated from MDWiki