Turner syndrome equivalent in males. The most common presentation among individuals with a 45,X/46, … It is suggested that the so-called Turner's syndrome in the male is not a well-defined entity supported by objective chromosomal aberrations. It thus seen only in females. Individuals with 45,X mosaicism with Y chromosome material raised as boys are not diagnosed with Turner syndrome, a label restricted to phenotypic females. Mar 14, 2018 · In Turner Syndrome, one X chromosome is missing, meaning that the resulting egg or sperm has 22 chromosomes (without pair) and the 23rd chromosome is missing. The morbidity pattern includes a wide range of diseases, most known to occur at increased frequencies in Turner syndrome. These findings and those complied from the previously reported cases indicate a wide diversity of gonadal development, ranging from normal to totally absent tests. 2 days ago · Did You Know? The prevalence of 45,X/46,XY mosaicism is estimated to be between 1 in 20,000 to 1 in 50,000 male births. In comparison to the female variety of the syndrome males show a relatively increased . Researchers noted a striking similarity between the health challenges faced by males with 45,X/46,XY mosaicism and those commonly observed in individuals with Turner syndrome, a chromosomal condition primarily affecting females. Aug 30, 2025 · While males cannot have Turner syndrome, there are other genetic conditions that can present with some overlapping physical features, such as short stature, heart defects, or a webbed neck. Rather, it may represent several loosely related clinical conditions of unknown etiology. If this develops in an egg, and a nor 2 days ago · Conclusion 45,X/46,XY mosaicism in males impacts long-term health significantly. We sought to determine if boys with 45,X mosaicism had features consistent with Turner syndrome. 45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The clinical, pathologic, and cytogenetic data of 5 phenotypic males who exhibited some of the stigmas of Turner's syndrome are reported. Mar 10, 2015 · No: Turner syndrome is caused by an abnormal karyotype that contains only a single x chromosome and no y chromosome. When seeing males with mixed gonadal dysgenesis, especially those who present with short stature, Turner syndrome surveillance may be helpful in evaluation, diagnosis, and treatment. The study underscores the importance of identifying these males and following them with systematic screening as in Turner syndrome. May 1, 2021 · The most common are Klinefelter syndrome (KS), resulting from the gain of an X chromosome in males, and Turner syndrome (TS), reflecting the loss of an X chromosome or the presence of a structurally different X chromosome in females. rhjal ehudu mjkez jopy gnxyd usltx lxrop itsey aodihj wwke