Disorders of Sexual Differentiation: Difference between revisions
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***'''In addition to defining müllerian anatomy and confirming the presence or absence of a uterus, the gonads and adrenals should be studied.''' | ***'''In addition to defining müllerian anatomy and confirming the presence or absence of a uterus, the gonads and adrenals should be studied.''' | ||
==== | ==== Labs ==== | ||
*'''Karyotype''' | *'''Karyotype''' | ||
**Should be obtained within the immediate neonatal period | **Should be obtained within the immediate neonatal period | ||
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**May define the precise genetic abnormality responsible for a given DSD, be it abnormal androgen receptor or an enzyme abnormality. | **May define the precise genetic abnormality responsible for a given DSD, be it abnormal androgen receptor or an enzyme abnormality. | ||
==== | ==== Imaging ==== | ||
*'''Pelvis US to determine presence of Mullerian-derived structures''' | *'''Pelvis US to determine presence of Mullerian-derived structures''' | ||
*'''Laparotomy or laparoscopy in this setting remains a diagnostic maneuver'''; removal of gonads or reproductive organs should be deferred until the final pathology report is available and a gender has been assigned. | *'''Laparotomy or laparoscopy in this setting remains a diagnostic maneuver'''; removal of gonads or reproductive organs should be deferred until the final pathology report is available and a gender has been assigned. | ||