Name of the Condition

• Female pseudohermaphroditism, not elsewhere classified
• It is also referred to in medical contexts as 46,XX DSD (Disorders of Sexual Development).

Summary

• Female pseudohermaphroditism is a condition in which an individual has an atypical sexual differentiation despite having typical female chromosomes (46,XX). This may result in the development of ambiguous genitalia.

Causes

• This condition is often caused by exposure to excess male hormones (androgens) during fetal development. It can be due to congenital adrenal hyperplasia, maternal ingestion of androgens during pregnancy, or other hormone imbalances.

Risk Factors

• Family history of hormonal disorders.
• Genetic predispositions to conditions like congenital adrenal hyperplasia.
• Maternal exposure to androgens or certain medications during pregnancy.

Symptoms

• Ambiguous genitalia in newborns.
• Abnormal periods or lack of menstruation in adolescence.
• Possible virilization, such as increased body hair or deepening of the voice.

Diagnosis

• Physical examination of the genitalia at birth.
• Hormonal assays to check levels of male and female hormones.
• Genetic testing such as karyotyping to confirm chromosomal patterns.

Treatment Options

• Hormonal therapy: To correct any imbalances and support normal development.
• Surgical interventions: May be considered to correct ambiguous genitalia for functional or cosmetic reasons.
• Psychosocial support: Counseling for patients and families to help navigate identity and medical choices.

Prognosis and Follow-Up

• With proper treatment and support, most individuals can lead healthy lives.
• Regular follow-up is essential to monitor hormone levels and assess any potential complications arising from the condition or treatments.

Complications

• Psychological distress due to gender identity issues.
• Fertility issues in adulthood.
• Increased risk of metabolic or cardiovascular issues if associated with conditions like congenital adrenal hyperplasia.

Lifestyle & Prevention

• Early detection through prenatal care and genetic counseling can aid in better management.
• Individuals with a family history should seek genetic counseling when planning a family.

When to Seek Professional Help

• Ambiguous genitalia in infants should be evaluated immediately.
• Any signs of virilization or hormonal imbalance during childhood or adolescence warrant professional evaluation.

Additional Resources

• Genetic and Rare Diseases Information Center (GARD)
• Intersex Society of North America
• Support groups and family counseling services.

Tips for Medical Coders

• Ensure accurate assignment of ICD code Q56.2 for this condition, distinguishing it from other forms of hermaphroditism.
• Cross-reference with the patient's medical history, family history, and known hormonal or genetic findings.
• Be mindful of concurrent conditions like congenital adrenal hyperplasia, which may require additional coding.