Abstract 139: Cystic parathyroid adenoma with Mayer Rokitansky Kuster Hauser syndrome: Association or coincidence?

Abstract

Introduction: Majority of cases of primary hyperparathyroidism (PHPT) are due to single gland adenoma. Cystic parathyroid adenomas are very rare. We report an unusual case of PHPT due to a cystic adenoma with Mayer Rokitansky Kuster Hauser (MRKH) Syndrome.Case Presentation: A 30-year-old woman with primary amenorrhoea presented with polyuria and bilateral renal stone disease. Biochemical investigations showed corrected calcium of 13mg/dl and parathormone (PTH) levels of 418 pg/ml. Ultrasonography of neck showed solid cystic nodule and Sestamibi scan showed nonMIBI-avid hypodense nodule in right thyroid lobe. Intracystic fluid aspirated from the lesion showed PTH of >2000 pg/ml. The lesion was surgically excised and patient achieved surgical remission. Evaluation of primary amenorrhea showed normal gonadotropins and hypoplastic uterus and upper two-thirds of vagina on magnetic resonance imaging of pelvis which was consistent with MRKH syndrome. Since literature review showed HNF1B to be associated with genitourinary abnormalities and PHPT, after patient consent sample for HNFIB mutation was sent and is awaited.Conclusion: Possibility of cystic parathyroid adenoma should be kept while localizing for PHPT as it poses a diagnostic challenge. Concurrent MRKH syndrome could be a true association or a mere coincidence.