DISORDERS INVOLVING SEX CHROMOSOMES
Klinefelter
syndrome is caused by meiotic nondisjunction and is a common causeof
male hypogonadism. The most common karyotype is 47,XXY. Lab studies show
elevated FSH and LH with low levels of testosterone. Clinical findings include
testic-ular atrophy, infertility due to azoospermia, eunuchoid body habitus, high-pitched
voice; female distribution of hair; and gynecomastia.
Turner
syndrome is a common cause of female hypogonadism. The most
commonkaryotype is 45,X. The second X chromosome is necessary for oogenesis and
normal development of the ovary. Clinically, patients fail to develop secondary
sex charac-teristics and have short stature with widely spaced nipples. Other
features include gonadal dysgenesis with atrophic streak ovaries; primary
amenorrhea; and infertility.
Clinical
features involving other organ systems include cystic hygroma and web-bing of
the neck; hypothyroidism; congenital heart disease (preductal coarctation of
the aorta and bicuspid aortic valve); and hydrops fetalis. Females with
45,X/46,XY mosaicism are at risk for gonadoblastoma.
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