Male Turner Syndrome, also known as 45,X0/46,XY mosaicism, is a rare genetic condition characterized by the presence of two distinct cell lines in males. It is considered a variant of Turner syndrome, which predominantly affects females. In Male Turner Syndrome, individuals have a mix of both typical male and female chromosomal patterns, resulting in a mosaic genetic makeup.
Typically, males have one X and one Y sex chromosome (46,XY), while females have two X chromosomes (46,XX). In Male Turner Syndrome, some cells show the typical male chromosomal pattern (46,XY), while others exhibit a missing or structurally altered Y chromosome (45,X0). This mosaicism leads to a varied presentation of physical and reproductive features.
The clinical features of Male Turner Syndrome can be highly variable, ranging from mild to severe. Affected individuals might exhibit characteristics commonly associated with Turner syndrome, such as short stature, delayed or incomplete puberty, infertility, and certain physical traits like a low hairline, wide-set nipples, or kidney abnormalities. However, due to the presence of the Y chromosome, they may also develop some secondary male sexual characteristics during puberty, including testicular enlargement and facial hair growth.
Diagnosis of Male Turner Syndrome involves genetic testing, usually through a chromosome analysis called karyotyping. Treatment options may focus on addressing individual symptoms or complications. Regular monitoring by healthcare professionals and appropriate management of any associated health concerns are essential to ensure the overall well-being of individuals with Male Turner Syndrome.
