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Investigations

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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  • early and urgent chromosomal analysis to determine the genotypic sex
  • measurement of urinary steroids and serum 17 hydroxyprogesterone to detect congenital adrenal hyperplasia; in classical 21 dehydroxylase the 17 hydroxyprogesterone will be raised
  • a serum sodium and other electolytes are important to exlude a salt-wasting congenital adrenal hyperplasia
  • pelvic ultrasound to assess the internal organs - specifically the presence or absence of a uterus, but also the location of the gonads
  • LH and testosterone levels - high with androgen insensitivity
  • laparoscopy may be required for biopsy of gonads found on ultrasound

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