Diagnosing disorders of sex development involves hormonal level assessments through blood tests and imaging studies to check for the presence of internal female reproductive organs.
Treatment depends on the underlying cause. In severe cases of Congenital Adrenal Hyperplasia (CAH), which is the most common of these disorders, treatment with steroid replacement therapy is essential for survival. CAH is a group of inherited genetic disorders that involves a deficiency in enzymes needed for adrenal gland hormone production, affecting cortisol (stress regulation), mineralocorticoids (sodium and potassium regulation) and androgens (male sex hormones).
Surgical intervention may be necessary for genital alignment with the chosen gender and removal of gonads not aligning with the gender of rearing. Some children may also require sex hormone replacement during puberty.
A multidisciplinary management team, includes paediatric endocrinology, surgery and genetics and metabolism experts, provides specialised care and counselling.