Atypical genitalia in neonates

Individuals with a disorder of sex development (DSD) should have their growth and development monitored.

In children with congenital adrenal hyperplasia (CAH), follow-up every 3 to 4 months is recommended. Ongoing psychological support will be required. Adequacy of treatment is monitored using growth parameters, blood pressure, bone age, serum electrolytes, and renin measurements to guide aldosterone replacement, and suppression of serum androgens to guide corticosteroid replacement. In addition, 24-hour profiles of 17 hydroxyprogesterone (17-OHP) may be indicated to assess the adequacy of glucocorticoid replacement throughout the day.

Those with other DSD should be carefully monitored to evaluate whether they spontaneously enter puberty or require intervention with exogenous hormone replacement. This will be largely dependent on their underlying diagnosis, prior surgery, and treatment in early childhood.

In those who spontaneously enter puberty, the progression and potential need for supplemental hormonal treatment should be routinely evaluated at a minimum of 6-monthly intervals.