An index case of multipl endocrine neoplasia type 1: Coexistence of primary hyperparathyroidism and acromegaly

Öz

Multipl endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disease characterized by hyperplasia or hyperfunction in more than one endocrine gland. The parathyroid, pancreas and anterior pituitary are often affected. A 32-year-old female patient who applied to the endocrinology outpatient clinic was diagnosed with primary hyperparathyroidism due to hypercalcemia and accompanying elevation of parathyroidism while being followed up for nephrolithiasis. When etiological evaluation was performed, a parathyroid adenoma was observed in the lower right side outside the thyroid parenchyma in ultrasonographic evaluation, and involvement in the same location was observed in parathyroid scintigraphy. Lower right parathyroid adenomectomy was performed. Although the patient had no clinical findings, anterior pituitary hormone analyzes were performed as a MEN1 screening test because she was young. Insulin like growth factor -1 (IGF-1) level was high. The patient underwent an OGTT/GH suppression test, and the lowest growth hormone level was found to be 6.53 ng/dl. The patient was diagnosed with acromegaly. Transsphenoidal adenomectomy was performed on the patient, who was detected to have a macroadenoma in the pituitary MRI examination. During the postoperative follow-up of the patient, IGF-1 levels decreased to normal limits and no residual areas were detected. It is considered to be in remission and follow-up continues. Familial forms should be kept in mind in young cases of primary hyperparathyroidism. Screening for MEN1 may enable early diagnosis of accompanying neoplasias.

Anahtar Kelimeler

• Multipl endocrine neoplasia type -1
• acromegaly
• primary hyperparathyroidism
• MEN1

Index multip endokrin neoplazi tip-1 vakası: Primer hiperparatiroidi ve akromegali birlikteliği

Öz

Multipl endokrin neoplazi tip 1 (MEN1) otozomal dominant kalıtılan birden fazla endokrin bezde hiperplazi ya da hiperfonksiyon ile karakterize herediter bir hastalıktır, sıklıkla paratiroid , pankreas ve ön hipofiz etkilenmektedir. Endokrinoloji polikliniğine 32 yaşında kadın hasta nefrolitiaizis nedeni ile takip edilirken hiperkalsemi ve eşlik eden parathormon yüksekliği sebebi ile primer hiperparatiroidizm tanısı aldı. Etyolojik değerlendrime yapıdığında ultrasonografik değerlendirmede tiroid parankimi dışında sağ altta paratiroid adenomu izlendi ve paratiroid sintigrafisinde de aynı lokalizyonda tutulum izlendi. Sağ alt paratiroid adenomektomi yapıldı. Primer hiperparatiroidizm tanısı olan hastaya genç olması nedeni klinik bulgusu olmamasına rağmen yapılan MEN1 taramasında ön hipofiz hormonlarından Insulin like growth faktör-1 (IGF-1) düzeyi yüksek geldi. Hastaya OGTT/GH supresyon testi yapıldı, en düşük büyüme hormon düzeyi: 6.53 ng/dl olarak saptandı. Hastaya akromegali tanısı koyuldu. Hipofiz MR incelemsinde makroadenom saptanan hastaya transsfenoidal adenomektomi yapıldı. Hastanın postoperatif takibinde IGF-1 düzeyleri normal sınırlara indi, rezidü alanı saptanmadı. Remisyonda kabul edilerek takibe devam edilmektedir. Genç primer hiperparatiroidi vakalarında familyal formların akılda tutulması gerekmektedir. MEN1 e yönelik taramaların yapılması eşlik edebilecek neoplazilerin erken dönemde tanınmasını sağlayabilir.

Anahtar Kelimeler

• Multipl endokrin neoplazi tip-1
• Akromegali
• Primer hiperparatiroidizm
• MEN-1

Kaynakça

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