Partial Gonadal Dysgenesis

The term partial gonadal dysgenesis is used to denote a condition in children with 46XY chromosome with incomplete gonadal differentiation. Prior to 2006 consensus meeting, the differentiation between PGD and mixed gonadal dysgenesis (MGD) was done on the basis of histopathology. Earlier, a patient with a dysgenetic testis on one side and streak gonad on the other was referred to as mixed gonadal dysgenesis, whereas a child with bilateral streak gonads was diagnosed as partial gonadal dysgenesis or dysgenetic male pseudohermophroditism. On further studies, it was found that the prognosis between these two similar diseases varied despite a similar phenotype. Following the 2006 consensus meeting, a child with 45 XO/46XY mosaic cell line presenting with incomplete gonadal differentiation was diagnosed to have MGD. The clinical presentation of children with PGD is variable ranging from predominantly female to ambiguous genitalia to predominantly male. The management includes genetic testing, hormonal evaluation, and imaging studies. The management is variable and has to be tailored to the needs of the individual patient by a multidisciplinary team after a complete discussion with the patient and the patient’s family.