Thyroid carcinoma and primary amenorrhea due to Mayer-Rokitansky-Küster-Hauser syndrome: a case report

INTRODUCTION: This case report describes an association between an exceptionally rare congenital anomaly and differentiated thyroid carcinoma. Mayer-Rokitansky-Küster-Hauser syndrome is characterized by vaginal aplasia associated with other Müllerian duct abnormalities. Its penetrance varies, as does the involvement of other organs. The association with thyroid carcinoma appears to be exceptionally rare, and warrants further attention. CASE PRESENTATION: We present the case of a 19-year-old Caucasian woman with amenorrhea and thyroid disease, with an unusually late diagnosis of gynecological abnormality. Management of her amenorrhea included investigation for congenital anomalies, including Mayer-Rokitansky-Küster-Hauser syndrome. Endocrine evaluation included a detailed analysis of sex hormone levels and thyroid function. The results of a physical examination and neck ultrasonography revealed abnormalities of the thyroid gland, which led to a diagnosis of thyroid cancer. To the best of our knowledge, thyroid cancer has not previously been reported in association with Mayer-Rokitansky-Küster-Hauser syndrome. However, genetic links between Mayer-Rokitansky-Küster-Hauser syndrome and thyroid cancer have not been investigated. The association may therefore be coincidental. CONCLUSIONS: All women with primary amenorrhea should undergo complete investigation of the genital tract and the endocrine axis. Careful examination of the thyroid gland is recommended.