Patient's question:
Newborn screening is performed three days after birth. The results show that 17-hydroxyprogesterone is 33.1, which is higher than the standard value of 33. All other tests are normal. The following assistance is needed: 1. Will a diagnosis of congenital adrenal hyperplasia be made if 17-hydroxyprogesterone is higher than the standard value? 2. Will the screening results be affected by the fact that the twins are twins? 3. This infant had pulmonary hypertension at birth, will it affect the screening results?Doctor's answer:
Early decline in urinary progesterone levels (which is more sensitive than the level of urinary 17-KS, as progesterone is a precursor of androgens), decline in blood 17-hydroxyprogesterone levels is the most sensitive indicator, suitable for children, normal chromosomal examination. X-ray examination will reveal premature bone age. Lateral urethrocystography will demonstrate the vagina, urethra, and bladder. CT scan reveals highly fibrotic adrenal glands. Urethrocystoscopy can clearly visualize the vagina opening on the posterior wall of the urethra, and it can also enter the vagina to see the uterus.