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Disorders of Sexual Differentiation
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==== Labs (7) ==== #'''<span style="color:#ff0000">Karyotype''' #*Should be obtained within the immediate neonatal period #'''<span style="color:#ff0000">Serum electrolytes''' #*'''Should be sent immediately sent to rule out a saltwasting form of CAH''' #'''<span style="color:#ff0000">Testosterone and DHT''' #*'''Should be measured early''' #'''<span style="color:#ff0000">17-hydroxyprogesterone''' #*'''Should not be measured until day 3 or 4 to rule out 21-hydroxylase deficiency, because the stress of delivery may result in physiologic elevation of this steroid precursor in the first 1 or 2 days of life.''' #'''hCG stimulation test''' #*'''In the absence of palpable testes, the presence or absence of testicular tissue should be determined by documentation of a markedly elevated LH level, consistent with anorchia, or by means of an hCG stimulation test, which can demonstrate normally functioning testicular tissue.''' #**'''In addition to ruling out anorchia, the [hCG stimulation] study can enable diagnosis of 5Ξ±-reductase deficiency (by virtue of an increased ratio of testosterone to DHT) and can help distinguish between impaired testosterone synthesis (deficient response to hCG) and androgen insensitivity (normal response to hCG).''' #'''Serum MIS''' #*'''Should be included as a marker of the presence of testicular tissue''' #'''PCR characterization of the androgen receptor''' in venous blood DNA #*May define the precise genetic abnormality responsible for a given DSD, be it abnormal androgen receptor or an enzyme abnormality.
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