Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma

Campomelic dysplasia (CD) is a rare skeletal dysplasia typically associated with a high neonatal mortality rate due to respiratory insufficiency. The condition is due to mutations in the SOX9 gene, which affects skeletal and sexual development. Mutations further away from this gene result in a milder condition, and thus some of those affected live into adulthood. Due to SOX9's effect on sexual development, there is sex reversal in approximately 75% of genotypic males (46XY). This report presents a unique case of a 1-year-old phenotypic female with a 46XY karyotype, diagnosed with CD, gonadal dysgenesis, and bilateral gonadoblastoma. The patient exhibited non-ambiguous female genitalia and a uterus but had undescended streak gonads. The streak gonads were surgically removed due to the increased risk of malignancy. Histological analysis revealed a right-sided streak gonad with multiple foci of dissecting gonadoblastoma and a left-sided streak gonad with classic gonadoblastoma. While the patients' gene break point lies at the 17q23.1 locus, outside of the widely accepted SOX9 region, there may be reason to believe her mutation is affecting the SOX9 gene. This case shows the importance of early diagnosis and intervention with gonadectomy in patients with campomelic dysplasia or other sex reversal disorders.