Turner Syndrome

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This is genetic disease that produces sterile females due to monosomy for X chromosome; the ovaries are rudimentary or missing; other abnormalities include short stature, webbed neck, and a broad chest with widely spaced nipples. Chromosomal abnormality involving a complete or partial absence of the second sex chromosome, occurring in approximately 1 in 2500 live female births. Variable phenotype; obvious stigmata such as neck webbing affect only 20% to 30% of patients. Characteristic clinical features include short stature and premature ovarian failure in a phenotypic female. Haploinsufficiency for X- or Y-encoded pseudoautosomal genes largely responsible for the phenotype. Intelligence is normal, with verbal skills generally greater than performance or visual-spatial skills.


Laboratory Test Procedures:

wide or web-like neck
receding or small lower jaw
high, narrow roof of the mouth (palate)
low-set ears
low hairline at the back of the head
drooping eyelids
broad chest with widely spaced nipples
short fingers and toes
arms that turn outward at the elbows (cubitus valgus)
fingernails turned upward
inability to conceive a child without fertility treatment
hands swelling
feet swelling
stunted growth
sensitivity to noise
learning disabilities
change in menstrual cycles
erectile dysfunction
short stature
difficulty in social situations, such as problems understanding other people's emotions or reactions

Luteinizing Hormone
Follicle Stimulating Hormone (FSH)
HGB (Hemoglobin) A1C
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