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?
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.
Klinefelter's syndrome
Edward Syndrome
Patau syndrome
Turner syndrome
Genetics And Genetic Disorders