Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

Ersoy, Reyhan; topaloglu, oya; Cakir, Bekir; Bilginer, Muhammet Cuneyt; Aydın, Cevdet; Fakı, Sevgul; SAAT, Hanife; Çavdarlı, Büşranur

doi:10.5152/erp.2023.220405

Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

Muhammet Cüneyt BİLGİNER, (Endokrinoloji Bölümü ve Metabolizma, Karadeniz Teknik Üniversitesi Tıp Fakültesi, Trabzon, Türkiye)

Cevdet AYDIN, (Endokrinoloji Bölümü ve Metabolizma, Ankara Yıldırım Beyazıt Üniversite Tıp Fakültesi, Ankara, Türkiye)

Sevgül FAKI, (Endokrinoloji Bölümü ve Metabolizma, Ankara Şehir Hastanesi, Üniversite Sağlık Bilimleri Fakültesi, Ankara, Türkiye)

Oya TOPALOĞLU, (Endokrinoloji Bölümü ve Metabolizma, Ankara Yıldırım Beyazıt Üniversite Tıp Fakültesi, Ankara, Türkiye)

Hanife SAAT, (Tıbbi Genetik Anabilim Dalı, Ankara Dışkapı Yıldırım Beyazıt Eğitim ve Araştırma Hastanesi, Ankara, Türkiye)

Büşranur ÇAVDARLI, (Tıbbi Genetik Anabilim Dalı, Ankara Şehir Hastanesi, Sağlık Bilimleri Üniversitesi, Ankara Türkiye)

Reyhan ERSOY, (Endokrinoloji Bölümü ve Metabolizma, Ankara Yıldırım Beyazıt Üniversite Tıp Fakültesi, Ankara, Türkiye)

Bekir CAKİR (Endokrinoloji Bölümü ve Metabolizma, Ankara Yıldırım Beyazıt Üniversite Tıp Fakültesi, Ankara, Türkiye)

Endocrinology research and practice

5 0

Yıl: 2023 Cilt: 27 Sayı: 2 Sayfa Aralığı: 71 - 77 Metin Dili: İngilizce DOI: 10.5152/erp.2023.220405 İndeks Tarihi: 03-06-2023

Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations

Öz:

Objective: This study aims to evaluate the presence of multiple endocrine neoplasia-1 mutations in patients with primary hyperparathyroidism detected on clinical and sonographical suspicion. Methods: We scanned the medical records of 361 patients with primary hyperparathyroidism between January 2010 and December 2017. Results: Fourteen of 361 patients (i.e., 2 males and 12 females) with primary hyperparathyroidism were evaluated genetically upon clinical and sonographical suspicion. Menin gene mutations were found in 3 of 14 patients (21.4%) patients. The frequency of multiple endocrine neoplasia-1 (n = 3) was estimated to be 0.83% in all patients with primary hyperparathyroidism (n = 361). Data of 4 patients with menin mutation analyses were as follows: case 1: A 37-year-old man presented with a 14-year history of recurring nephrolithiasis. He was diagnosed with primary hyperparathyroidism. Genetic analysis was reported as multiple endocrine neoplasia-1: c.643_646delACAG (p.Thr215Serfs*13) heterozygote; case 2: A 35-year-old man with primary hyperparathyroidism and prolactinoma was diagnosed. Genetic analysis was reported as multiple endocrine neoplasia-1: c.654+1G>A hetero- zygote; case 3: A 26-year-old woman with hyperammonemia, partial empty sella, and hyperprolac- tinemia was evaluated. Genetic testing revealed heterozygote genomic changes in c984c>a in the multiple endocrine neoplasia-1 gene on the seventh exon; case 4: A 27-year-old man was diagnosed with nephrolithiasis when he was 19 years old. He had both primary hyperparathyroidism and pro- lactinoma. Multiple endocrine neoplasia-1 and CDKN1B genetic mutation analyses were negative. Because mutation-negative syndromes could not be ruled out, a neck exploration was performed, and a parathyroid adenoma was excised. Conclusions: Patients with primary hyperparathyroidism should be evaluated for multiple endocrine neoplasia-1 mutations upon clinical and sonographical suspicion. It should be noted that an indi- vidual with the multiple endocrine neoplasia-1 gene mutation has a 100% penetrance up to the age of 40-50 years. Additionally, 2 novel multiple endocrine neoplasia-1 mutations were identified.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	Bilginer M, Aydın C, Fakı S, topaloglu o, SAAT H, Çavdarlı B, Ersoy R, Cakir B (2023). Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. , 71 - 77. 10.5152/erp.2023.220405
Chicago	Bilginer Muhammet Cuneyt,Aydın Cevdet,Fakı Sevgul,topaloglu oya,SAAT Hanife,Çavdarlı Büşranur,Ersoy Reyhan,Cakir Bekir Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. (2023): 71 - 77. 10.5152/erp.2023.220405
MLA	Bilginer Muhammet Cuneyt,Aydın Cevdet,Fakı Sevgul,topaloglu oya,SAAT Hanife,Çavdarlı Büşranur,Ersoy Reyhan,Cakir Bekir Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. , 2023, ss.71 - 77. 10.5152/erp.2023.220405
AMA	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. . 2023; 71 - 77. 10.5152/erp.2023.220405
Vancouver	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. . 2023; 71 - 77. 10.5152/erp.2023.220405
IEEE	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B "Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations." , ss.71 - 77, 2023. 10.5152/erp.2023.220405
ISNAD	Bilginer, Muhammet Cuneyt vd. "Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations". (2023), 71-77. https://doi.org/10.5152/erp.2023.220405

APA	Bilginer M, Aydın C, Fakı S, topaloglu o, SAAT H, Çavdarlı B, Ersoy R, Cakir B (2023). Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. Endocrinology research and practice, 27(2), 71 - 77. 10.5152/erp.2023.220405
Chicago	Bilginer Muhammet Cuneyt,Aydın Cevdet,Fakı Sevgul,topaloglu oya,SAAT Hanife,Çavdarlı Büşranur,Ersoy Reyhan,Cakir Bekir Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. Endocrinology research and practice 27, no.2 (2023): 71 - 77. 10.5152/erp.2023.220405
MLA	Bilginer Muhammet Cuneyt,Aydın Cevdet,Fakı Sevgul,topaloglu oya,SAAT Hanife,Çavdarlı Büşranur,Ersoy Reyhan,Cakir Bekir Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. Endocrinology research and practice, vol.27, no.2, 2023, ss.71 - 77. 10.5152/erp.2023.220405
AMA	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. Endocrinology research and practice. 2023; 27(2): 71 - 77. 10.5152/erp.2023.220405
Vancouver	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations. Endocrinology research and practice. 2023; 27(2): 71 - 77. 10.5152/erp.2023.220405
IEEE	Bilginer M,Aydın C,Fakı S,topaloglu o,SAAT H,Çavdarlı B,Ersoy R,Cakir B "Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations." Endocrinology research and practice, 27, ss.71 - 77, 2023. 10.5152/erp.2023.220405
ISNAD	Bilginer, Muhammet Cuneyt vd. "Presence of Multiple Endocrine Neoplasia-1 Mutations in Patients with Primary Hyperparathyroidism Detected on Clinical and Sonographical Suspicion: Report of 2 Novel Mutations". Endocrinology research and practice 27/2 (2023), 71-77. https://doi.org/10.5152/erp.2023.220405