Although similar in some ways to true hermaphroditism, the conditions can be distinguished histologically and by karyotyping. The observable characteristics (phenotype) of this condition are highly variable, ranging from gonadal dysgenesis in males, to Turner-like females and phenotypically normal males. The phenotypical expression may be ambiguous, male or female depending on the extent of the<unk> . The most common presentation of<unk> ,X/46,XY karyotype is phenotypically normal male, next being genital ambiguity. There is a range of chromosomal anomalies within<unk> ,X/46,XY where the variations are very complex, and the actual result in living individuals is often not a simple picture. Most patients with this karyotype are known to have abnormal gonadal histology and heights considerably below their genetic potential. High gonadotropin levels have been described in both male and female patients, as well as low levels of testosterone in male patients. Dosage loss of SHOX gene is commonly associated with short stature. Psychomotor development is normal. As the gonads may not be symmetrical, the development of the Müllerian duct and Wolffian duct may be asymmetrical, too. Because of the presence of dysgenetic gonadal tissue and Y chromosome material, there is a high risk of the development of a gonadoblastoma.
45,X/46,XY mosaicism
XY gonadal dysgenesis
XX gonadal dysgenesis
Y chromosome microdeletion
Distal trisomy 10q
Small supernumerary marker chromosome
XY sex-determination system
Tetrasomy 18p