All the following are associated with Turner&;s syndrome except
45, X (Turner Syndrome)Turner syndrome (45, X) is the most common karyotypic abnormality causing gonadal failure and primary amenorrhea. It appears that patients with Turner syndrome initially have normal ovarian development in utero. Amenorrhea is the result of accelerated atresia of the follicles. The fibrotic ovaries are called streak ovaries.In addition to gonadal failure, there are associated stigmata with Turner syndrome that include sho stature, webbed neck, shield chest, cubitus valgus (increased carrying angle of the arms), low hairline, high arched palate, multiple pigmented nevi, and sho fouh metacarpals. X inactivation is a process that inactivates most of the genes on one X chromosome. Of the genes on the X chromosome, 20% escape X inactivation, and it is believed that loss of the second copy of these genes in a 45, X patient causes the stigmata associated with Turner syndrome.Although Turner syndrome classically is associated with a 45, X karyotype, more than half of patients are mosaics (e.g., 45, X/46, XX). The sine qua non of Turner syndrome is sho stature.Most women with Turner syndrome have no pubeal development and primary amenorrhea.After the diagnosis of Turner syndrome is confirmed by karyotype, studies should be performed to ensure that cardiac (30% have coarctation of the aoa), renal (especially horseshoe kidney), and autoimmune (thyroiditis) abnormalities are diagnosed and treated.Women with Turner syndrome should be screened for diabetes mellitus, aoic enlargement, hypeension, and hearing loss throughout their lives.Reference: Clinical gynecologic endocrinology; 10th edition; Chapter 9; Normal and Abnormal Sexual Development; Page no: 377, 378
Primary amenorrhea
Sho stature
Cubitus varus
Aoic coarctation
Sexuality and intersexuality