Turner syndrome occurs in girls and is characterized by abnormal external appearance (such as webbed neck and cubitus valgus), abnormalities of certain internal organs (particularly heart and kidneys), dysgenesis of the ovaries, and short stature. It is caused by the complete or partial absence of one of the two X chromosomes. There is no increased prevalence of mental retardation, however difficulties with visuospatial tasks and vulnerability to specific behavioral problems, as well as learning disabilities are often seen. Individuals are susceptible to a number of medical problems for which monitoring throughout adult life is recommended.
|Congenital heart disease, Dissection of the aorta, Gonadal failure, Gonadoblastoma, Growth hormone treatment, High frequency hearing loss, Hormonal replacement therapy, Infertility, Oocyte donation, Oxandrolone, Puberty induction, Short stature, SHOX haploinsufficiency, Turner syndrome|
|Organisation||Erasmus MC: University Medical Center Rotterdam|
Sas, T.C.J, Van Alfen-van Der Velden, J.A.E.M, & de Muinck Keizer-Schrama, S.M.P.F. (2014). Turner Syndrome. doi:10.1016/B978-0-12-801238-3.04146-5