Disorders of sex development (also known as differences in sex development or DSD) encompasses 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:
Develop a logical plan for investigation
Diagnose and determine the appropriate gender assignment
Coordinate medical, surgical and psychological interventions in a multidisciplinary setting
Causes Of Disorders of Sex Development
Disorders of sex development can arise from various causes, which include:
Abnormalities in sex chromosomes
Genetic mutations affecting gonadal (testes or ovary) development
Inherited deficiencies in sex hormone-producing enzymes
Problems with hormone response or signalling (e.g. in androgen receptor insensitivity)
Signs And Symptoms Of Disorders of Sex Development
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 obviously resemble that of male or female (a phenomenon referred to as ambiguous genital) and may not be consistent with the prenatal chromosomal analysis for the sex they were expecting in their baby. This discrepancy can cause considerable distress.
In older children, signs of disorders of sex development may include:
Delayed puberty in girls
Absence of menstruation in girls despite other signs of puberty
Development of male characteristics during puberty in girls
Delayed or incomplete puberty in boys
Diagnosis And Treatment Options For Disorders of Sex Development
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, including paediatric endocrinology, surgery and genetics and metabolism experts, provides specialised care and counselling.
Research On Disorders of Sex Development In Children
Continued clinical research is essential for advancing paediatric healthcare. Our doctors are committed to contributing to the future of child health and medicine through both clinical practice and research.
15th Haridas Memorial Lecture (2001). Molecular characterisation of the CYP21 gene for congenital adrenal hyperplasia in Singapore. Singapore Paediatric Journal, 43(3).
