investigations
Last reviewed 01/2018
- 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