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Swyer Syndrome

Swyer Syndrome Definition

Swyer syndrome, or XY gonadal dysgenesis, is a kind of female hypogonadism in which no functional gonads are present to induce puberty in an otherwise normal girl whose karyotype is then found to be XY.

Swyer Syndrome Diagnosis

Evaluation of delayed puberty usually shows elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation typically include checking a karyotype and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but missing ovaries (the streak gonads are not usually seen by most imaging).

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