Craniopharyngioma and Bardet-Biedl syndrome - A case report

BACKGROUND: Bardet-Biedl syndrome is a rare disorder and associated with a variety of anomalies. CASE: An 18-year-old woman was referred with primary amenorrhea. Following physical, ophthalmologic, psychiatric, hormonal and radiologic examinations , the diagnosis of both craniopharyngioma and Bardet-Biedl syndrome was est ablished. CONCLUSION: Although the pathogenesis of hypogonadism in a woman with Barde t-Biedl syndrome remains unclear, cranial structures, especially the hypoth alamus and pituitary gland, should be investigated to reveal any possible a bnormalities.