Genetic mutations and @entity154 in association with 46,XY XXXX .

@entity1 @entity154 @entity2321 @entity4998 @entity5712 @entity5 @entity8587 @entity48069 @entity1778 @entity4797 @entity444 @entity2588
OBJECTIVE: To assess genetic mutations and associated @entity154 in a series of @entity1 with 46,XY @entity444 ( @entity444 ). DESIGN: Single center retrospective study. SETTING: University pediatric hospital. @entity1 (S): Fourteen @entity1 with 46,XY @entity444 . INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype-phenotype relationship. RESULT(S): The presenting symptom was @entity4998 (6 @entity1 ), primary @entity2588 (2 @entity1 ), discordance between 46,XY karyotype and female external genitalia (3 @entity1 ), discovery of M  llerian structures at surgery (2 @entity1 ), or diagnosed in the evaluation of a @entity5 (1 @entity1 ). M  llerian structures were shown by ultrasound evaluation in 7 of 13 @entity1 , genitography in 3 of 6 @entity1 and/or surgery in 8 of 10 @entity1 (3 not seen at imaging), or only by histologic examination (1 @entity1 ). Three @entity1 had @entity5712 and/or @entity4797 . A mutation was found in 7 @entity1 of whom 2 had family history of reproductive problems and 5 had associated @entity154 . The mutations were @entity48069 / @entity48069 (1 @entity1 ), SRY (2 @entity1 ), @entity8587 (1 @entity1 ), or deletions of distal chromosome 9p (3 @entity1 ). Among the three other @entity1 with associated anomalies and no mutation, two had @entity2321 and one had @entity1778 . CONCLUSION(S): Mutations were observed in half of the @entity1 with 46,XY @entity444 with M  llerian structures. We also describe for the first time the association between @entity444 and @entity2321 . M  llerian structures can be found in some cases only by histologic examination, which should be coupled to preventive gonadectomy because of the risk of @entity5 formation.
