Disorders of sex development encompass a diverse range of conditions that may present in newborns with atypical external genitalia or in adolescents with unusual sexual development during puberty. These cases require comprehensive evaluation to:
Disorders of sex development can arise from various causes, which include:
In newborns, disorders of sex development may manifest as underdeveloped or atypical genitalia. Parents may be surprised at birth if the baby's external genitalia do not align with prenatal chromosomal analysis. This discrepancy can cause considerable distress.
In older children, signs of disorders of sex development may include:
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.
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