Name of the Condition

• 46, XX true hermaphrodite
• Ovotesticular disorder of sex development (DSD)

Summary

46, XX true hermaphrodite is a rare intersex condition where an individual has both ovarian and testicular tissue. Despite having two X chromosomes typically associated with females, individuals with this condition may exhibit ambiguous genitalia or a mix of male and female physical characteristics.

Causes

The condition may result from atypical chromosomal distributions, gene mutations, or environmental factors affecting embryonic development. However, precise causative factors often remain unknown.

Risk Factors

• Genetic predisposition or family history of intersex variations.

• Presence of genetic anomalies in sex chromosomes.

  Symptoms

• Ambiguous genitalia at birth (e.g., enlarged clitoris, undescended testes).
• Atypical pubertal development.
• Mixed anatomical characteristics, such as both ovarian and testicular tissue.

Diagnosis

• Chromosomal analysis (karyotyping)
• Hormonal assays to measure levels of sex hormones.
• Imaging techniques (ultrasound, MRI) to assess internal reproductive organs.
• Biopsy to identify ovarian and testicular tissues.

Treatment Options

• Hormone replacement therapy to optimize secondary sexual characteristics.
• Surgical interventions to address or reconstruct ambiguous genitalia.
• Psychological support and counseling for patients and families.

Prognosis and Follow-Up

• Outcomes vary depending on timely diagnosis and management.
• Regular follow-up is essential for hormonal balance and monitoring of reproductive health.
• Psychological and social support is critical for a positive quality of life.

Complications

• Fertility issues or infertility.
• Psychological or identity challenges.
• Increased risk of gonadal tumors.

Lifestyle & Prevention

• There are no known lifestyle changes to prevent the condition due to its genetic and developmental origins.
• Supportive and affirming environments can aid in psychological well-being.

When to Seek Professional Help

• Observation of ambiguous genitalia in a newborn.
• Delayed or atypical puberty.
• Psychological distress associated with gender identity.

Additional Resources

• InterACT (advocates for intersex youth): interACT website
• Accord Alliance: Accord Alliance website
• PFLAG National: PFLAG website

Tips for Medical Coders

• Use the correct ICD-10 code Q99.1 for 46, XX true hermaphrodite.
• Be cautious of similar intersex and DSD conditions which may have different codes.
• Verify the presence of both ovarian and testicular tissue in clinical documentation.