A 7-year-old girl has presented in the outpatient department with complaints of short stature. On examination, child has a cubitus valgus, shield shaped chest with widely spaced nipples, webbed neck and short 4th metacarpal. What is the most likely clinical diagnosis?
Klinefelter's syndrome
Edward Syndrome
Patau syndrome
Turner syndrome
Ans. D. Turner syndrome* Turner syndrome is the most important cause of hypergonadotropic hypogonadism in girls.* The disorder affects 1 in 2,500 newborn phenotypic females. An early loss of ovarian function (ovarian hypofunction or premature ovarian failure) is common.* The ovaries develop normally at first, but egg cells (oocytes) usually die prematurely and most ovarian tissue degenerates before birth. Hence streak ovaries are seen on ultrasonography.* Many affected girls do not undergo puberty unless they receive hormone therapy, and most are unable to conceive (infertile). A small percentage of females with Turner syndrome retain normal ovarian function through young adulthood.
Genetics And Genetic Disorders