Question
On the third day after birth, a neonatal disease screening revealed that the 17-hydroxyprogesterone level was 33.1, higher than the standard value of 33.3, while the rest of the checks were normal. Please ask: 1. Would a diagnosis of congenital adrenal hyperplasia be made if the 17-hydroxyprogesterone level is higher than the standard value? 2. Would twins affect the screening results? 3. Would the neonate’s birth with pulmonary hypertension have an impact on the screening results?
Answer
The early decrease in urinary progesterone levels (this is more sensitive than the level of urinary 17-KS, as progesterone is a precursor to androgens) and the decrease in blood 17-hydroxyprogesterone levels are the most sensitive indicators, suitable for children, and karyotype examination is normal. X-ray examination reveals bone age acceleration. Lateral urethrogram shows the vagina, urethra, and bladder. CT scans reveal highly fibrotic adrenal glands. Cystoscopy can clearly see the opening on the posterior wall of the urethra and can also enter the vagina to see the uterus.