In cases where the individual is being evaluated for ambiguous genitalia, such as a small phallus, hypospadias, or labioscrotal folds, exploratory surgery may be used to determine if<unk>  and/or female internal genitalia is present. Indicators include two testes which have not descended the inguinal canal, although this is seen in a minority of XX<unk> s, and the absence of Müllerian tissue. External indicators include decreased body weight and small testes. A standard karyotype can be completed to cytogenetically determine that an individual with a partial or complete<unk>  phenotype has an XX genotype. The presence and location of the SRY gene can by determined using fluorescence in situ hybridization (FISH).
XX male syndrome
XYY syndrome
XXXY syndrome
XYYY syndrome
XXYY syndrome
XXXXY syndrome
Turner syndrome
XYYYY syndrome