What is the appropriate evaluation and management for a 6-year-old girl with clitoromegaly?

Evaluation and Management of Clitoromegaly in a 6-Year-Old Girl

A 6-year-old girl with clitoromegaly requires urgent evaluation for hyperandrogenism, with measurement of clitoral width after retracting the clitoral hood (normal <10 mm), followed by endocrine workup including 17-OH progesterone, testosterone, and assessment for congenital adrenal hyperplasia or other virilizing conditions. 1

Immediate Assessment

Physical Examination

• Measure clitoral width after retracting the clitoral hood; normal width should be <10 mm 1
• Assess Tanner stage and note any other signs of virilization (pubic hair development, body odor, acne) 1
• Examine for hyperpigmentation, which may suggest congenital adrenal hyperplasia 2
• Evaluate hymenal patency and configuration 1
• Document any skin changes, inflammation, or pigmentary abnormalities 1

Critical Differential Diagnosis

An enlarged clitoris indicates elevated androgens from either ovarian or adrenal sources 1. The most common etiologies include:

• Congenital adrenal hyperplasia (most common cause of 46,XX DSD) 2
• Androgen-secreting ovarian or adrenal tumors 1
• Exogenous androgen exposure 2
• Premature adrenarche with pathologic androgen excess 1
• Persistent clitoromegaly from extreme prematurity (if applicable to birth history) 3

Diagnostic Workup

Essential Laboratory Studies

• Karyotype 2
• 17-OH progesterone (to screen for congenital adrenal hyperplasia) 2
• Testosterone level 2
• Luteinizing hormone (LH) and follicle-stimulating hormone (FSH) 2
• Metabolic panel and electrolytes 2
• Urinalysis 2

Imaging Studies

• Abdominal and pelvic ultrasound to evaluate adrenal glands and ovaries 2
• Consider MRI if ultrasound findings are inconclusive or if a mass is identified 2

Multidisciplinary Referral

This child requires evaluation by a multidisciplinary team including pediatric endocrinology, pediatric urology/surgery, and potentially genetics 1. The team should:

• Establish the underlying diagnosis before making treatment decisions 1
• Provide comprehensive family education with open communication 1
• Involve the family actively in decision-making with full disclosure of diagnosis and treatment options 1
• Ensure the examination is performed sensitively, explaining each step to the child and allowing her to maintain control 1

Management Considerations

Surgical Intervention

Surgical decisions should be individualized based on the underlying diagnosis, degree of virilization, and family preferences after comprehensive counseling 1. Important considerations include:

• Clitoral surgery is controversial and should only be performed by surgeons with specific training and experience in disorders of sex development 1
• The 2006 Chicago Consensus shifted away from universal equivalence of gender assignment with surgery, favoring more individualized care 1
• Recent data show that 52% of European centers report performing fewer clitoroplasties in less severe cases 1
• Women with CAH and clitoromegaly report significant negative psychological impacts on self-esteem, body image, romantic relationships, and sexual activities 4
• Historical surgical series show satisfactory anatomic results with preserved sexual function, though these studies predate current outcome research 5

Medical Management

Treatment of the underlying endocrine disorder is the priority 2. For congenital adrenal hyperplasia:

• Glucocorticoid replacement to suppress excess androgen production 2
• Mineralocorticoid replacement if salt-wasting form 2
• Close endocrine monitoring to prevent further virilization 2

Critical Pitfalls to Avoid

• Do not delay endocrine evaluation—congenital adrenal hyperplasia can be life-threatening if untreated 2
• Do not perform imaging of the clitoris itself unless planning surgery; focus imaging on identifying the source of androgen excess 2
• Do not rush surgical decisions—the shift in practice emphasizes careful consideration rather than urgent intervention 1
• Ensure the child is not forced to undergo examination; if she does not tolerate it, stop and try again later 1
• Recognize that clitoromegaly has significant psychosocial impacts that require ongoing psychological support 4

Special Consideration for Prematurity

If this child was born extremely prematurely, persistent unexplained clitoromegaly may be a benign finding after DSD has been excluded 3. In such cases:

• Management includes reassurance and simple measures for comfort 3
• Surgical referral should only occur if specifically requested by the family after thorough counseling 3
• As survival rates for extreme prematurity improve, this presentation is becoming more common 3