Ambiguous genitalia in the Proteus syndrome

Area of Science:

• Genetics and Developmental Biology
• Pediatric Endocrinology
• Dermatology

Background:

• Proteus syndrome is a complex congenital disorder characterized by asymmetric, segmental overgrowth and a predisposition to tumor formation.
• Previous descriptions of Proteus syndrome have not consistently included genital abnormalities.
• Endocrine evaluation is typically performed to rule out hormonal causes for genital anomalies.

Observation:

• An 11-year-old female patient presented with established features of Proteus syndrome: hemihypertrophy of the left leg and thigh, multiple pigmented nevi, and subcutaneous tumors.
• The patient also exhibited clitoromegaly and scrotal-like hypertrophy of the labia majora.
• Endocrine workup yielded normal results, suggesting a non-hormonal etiology for the genital findings.

Findings:

• The observed genital abnormalities in this patient are consistent with local genital hypertrophy.
• These findings suggest that ambiguous genitalia should be considered a potential component of the Proteus syndrome phenotype.
• The combination of somatic overgrowth, cutaneous markers, and genital anomalies expands the recognized clinical spectrum of Proteus syndrome.

Implications:

• Recognition of ambiguous genitalia in Proteus syndrome is crucial for accurate diagnosis and comprehensive patient management.
• This case underscores the need for careful examination of external genitalia in individuals diagnosed with Proteus syndrome.
• Further research is warranted to elucidate the genetic and developmental mechanisms underlying genital involvement in Proteus syndrome.