Which disorder of sexual development is associated with increased risk of endometrial cancer, coeliac disease, and structural heart defects?

Which disorder of sexual development is associated with increased risk of endometrial cancer, coeliac disease, and structural heart defects?

• A. Klinefelter syndrome
• B. Turner’s syndrome
• C. Androgen insensitivity syndrome
• D. Triple X syndrome

Answer: (B)

Turner syndrome, a monosomy X condition in phenotypic females, is classically linked with autoimmune and cardiovascular issues. Individuals with Turner have a higher risk of coeliac disease and other autoimmune conditions, and they frequently have structural heart defects such as coarctation of the aorta or a bicuspid aortic valve. When puberty is induced with estrogen therapy in Turner patients, unopposed estrogen exposure can increase the risk of endometrial hyperplasia and, over time, endometrial cancer if progestin is not adequately added. This combination of autoimmune coeliac disease, heart defects, and the need for estrogen-based puberty induction fits Turner syndrome best among the options.

Turner syndrome, a monosomy X condition in phenotypic females, is classically linked with autoimmune and cardiovascular issues. Individuals with Turner have a higher risk of coeliac disease and other autoimmune conditions, and they frequently have structural heart defects such as coarctation of the aorta or a bicuspid aortic valve. When puberty is induced with estrogen therapy in Turner patients, unopposed estrogen exposure can increase the risk of endometrial hyperplasia and, over time, endometrial cancer if progestin is not adequately added. This combination of autoimmune coeliac disease, heart defects, and the need for estrogen-based puberty induction fits Turner syndrome best among the options.