Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

Hülya Hacişahinoğulları; Onour Chasan; Gamze Bilik Oyman; Ümmü Mutlu; İsmail Sormaz; Gulsah Yalın; Nurdan Gül; Ayşe Kubat Uzum; Yasemin Giles Şenyürek; Özlem Soyluk Selçukbiricik

Makale detayları

Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

Yazarlar:

Hülya Hacişahinoğulları | Onour Chasan | Gamze Bilik Oyman | Ümmü Mutlu | İsmail Sormaz | Gulsah Yalın | Nurdan Gül | Ayşe Kubat Uzum | Yasemin Giles Şenyürek | Özlem Soyluk Selçukbiricik

Yayıncı:

Istanbul University

Ana Başlıklar:

Clinical Sciences (Other)

Dergi:

The Turkish Journal of Ear Nose and Throat Vol.34 Issue 3, pp.92-96

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001329969

pISSN:

2602-4837

Anahtar kelimeler:

Özet:

 Objective: Multiple endocrine neoplasia type 2A MEN2A is an autosomal dominantly inherited tumour syndrome and primary hyperparathyroidism pHPT is one of the major components of MEN2A. Our study evaluated the features of MEN2A-related hyperparathyroidism Material and Methods: Records of 49 patients with MEN2A followed up at Istanbul Faculty of Medicine were retrospectively reviewed. Results: This study included 25 females and 24 males, and 55 of the patients had RET 634 variants. The median follow-up duration was 12 years. Medullary thyroid cancer MTC was present in 44 patients, and the mean age at diagnosis was 30.814 years. Pheochromocytoma was detected in 61 of patients, and the mean age at diagnosis was 36.412.6 years. Twelve patients FM1 had pHPT, and the mean age at diagnosis was 4015.7 years. The frequency of pHPT was 6 in the ATA moderate-risk category and 33.3 in the high-risk category RET 634 variants. pHPT developed in 3 of 4 patients carrying the RET C634R variant. The most common symptoms were nephrolithiasis and osteoporosis, and 67 of patients had normocalcemic pHPT. Selective surgery was performed in 9 patients and subtotal parathyroidectomy in 1 patient. The median follow-up duration after the diagnosis of pHPT was 10.5 years, and persistent disease developed in 1 patient. Recurrent hyperparathyroidism occurred in 1 patient 12 years after the first operation. Five patients developed permanent hypoparathyroidism. Conclusion: The RET mutation at codon 634 is associated with a high frequency of pHPT, usually accompanied by normocalcemia or, less frequently, mild hypercalcemia.

 Objective: Multiple endocrine neoplasia type 2A MEN2A is an autosomal dominantly inherited tumour syndrome and primary hyperparathyroidism pHPT is one of the major components of MEN2A. Our study evaluated the features of MEN2A-related hyperparathyroidism Material and Methods: Records of 49 patients with MEN2A followed up at Istanbul Faculty of Medicine were retrospectively reviewed. Results: This study included 25 females and 24 males, and 55 of the patients had RET 634 variants. The median follow-up duration was 12 years. Medullary thyroid cancer MTC was present in 44 patients, and the mean age at diagnosis was 30.814 years. Pheochromocytoma was detected in 61 of patients, and the mean age at diagnosis was 36.412.6 years. Twelve patients FM1 had pHPT, and the mean age at diagnosis was 4015.7 years. The frequency of pHPT was 6 in the ATA moderate-risk category and 33.3 in the high-risk category RET 634 variants. pHPT developed in 3 of 4 patients carrying the RET C634R variant. The most common symptoms were nephrolithiasis and osteoporosis, and 67 of patients had normocalcemic pHPT. Selective surgery was performed in 9 patients and subtotal parathyroidectomy in 1 patient. The median follow-up duration after the diagnosis of pHPT was 10.5 years, and persistent disease developed in 1 patient. Recurrent hyperparathyroidism occurred in 1 patient 12 years after the first operation. Five patients developed permanent hypoparathyroidism. Conclusion: The RET mutation at codon 634 is associated with a high frequency of pHPT, usually accompanied by normocalcemia or, less frequently, mild hypercalcemia.

 Objective: Multiple endocrine neoplasia type 2A MEN2A is an autosomal dominantly inherited tumour syndrome and primary hyperparathyroidism pHPT is one of the major components of MEN2A. Our study evaluated the features of MEN2A-related hyperparathyroidism Material and Methods: Records of 49 patients with MEN2A followed up at Istanbul Faculty of Medicine were retrospectively reviewed. Results: This study included 25 females and 24 males, and 55 of the patients had RET 634 variants. The median follow-up duration was 12 years. Medullary thyroid cancer MTC was present in 44 patients, and the mean age at diagnosis was 30.814 years. Pheochromocytoma was detected in 61 of patients, and the mean age at diagnosis was 36.412.6 years. Twelve patients FM1 had pHPT, and the mean age at diagnosis was 4015.7 years. The frequency of pHPT was 6 in the ATA moderate-risk category and 33.3 in the high-risk category RET 634 variants. pHPT developed in 3 of 4 patients carrying the RET C634R variant. The most common symptoms were nephrolithiasis and osteoporosis, and 67 of patients had normocalcemic pHPT. Selective surgery was performed in 9 patients and subtotal parathyroidectomy in 1 patient. The median follow-up duration after the diagnosis of pHPT was 10.5 years, and persistent disease developed in 1 patient. Recurrent hyperparathyroidism occurred in 1 patient 12 years after the first operation. Five patients developed permanent hypoparathyroidism. Conclusion: The RET mutation at codon 634 is associated with a high frequency of pHPT, usually accompanied by normocalcemia or, less frequently, mild hypercalcemia.

 Objective: Multiple endocrine neoplasia type 2A MEN2A is an autosomal dominantly inherited tumour syndrome and primary hyperparathyroidism pHPT is one of the major components of MEN2A. Our study evaluated the features of MEN2A-related hyperparathyroidism Material and Methods: Records of 49 patients with MEN2A followed up at Istanbul Faculty of Medicine were retrospectively reviewed. Results: This study included 25 females and 24 males, and 55 of the patients had RET 634 variants. The median follow-up duration was 12 years. Medullary thyroid cancer MTC was present in 44 patients, and the mean age at diagnosis was 30.814 years. Pheochromocytoma was detected in 61 of patients, and the mean age at diagnosis was 36.412.6 years. Twelve patients FM1 had pHPT, and the mean age at diagnosis was 4015.7 years. The frequency of pHPT was 6 in the ATA moderate-risk category and 33.3 in the high-risk category RET 634 variants. pHPT developed in 3 of 4 patients carrying the RET C634R variant. The most common symptoms were nephrolithiasis and osteoporosis, and 67 of patients had normocalcemic pHPT. Selective surgery was performed in 9 patients and subtotal parathyroidectomy in 1 patient. The median follow-up duration after the diagnosis of pHPT was 10.5 years, and persistent disease developed in 1 patient. Recurrent hyperparathyroidism occurred in 1 patient 12 years after the first operation. Five patients developed permanent hypoparathyroidism. Conclusion: The RET mutation at codon 634 is associated with a high frequency of pHPT, usually accompanied by normocalcemia or, less frequently, mild hypercalcemia.

Makale detayları

Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

Yazarlar:

Hülya Hacişahinoğulları | Onour Chasan | Gamze Bilik Oyman | Ümmü Mutlu | İsmail Sormaz | Gulsah Yalın | Nurdan Gül | Ayşe Kubat Uzum | Yasemin Giles Şenyürek | Özlem Soyluk Selçukbiricik

Yayıncı:

Istanbul University

Ana Başlıklar:

Clinical Sciences (Other)

Dergi:

The Turkish Journal of Ear Nose and Throat Vol.34 Issue 3, pp.92-96

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001329969

pISSN:

2602-4837

Multiple Endocrine Neoplasia type Type 2A

MEN2A

Primary Hyperparathyroidism

Sayı

Makale detayları

Characteristics of Primary Hyperparathyroidism in Multiple Endocrine Neoplasia Type 2A

Yazarlar: Hülya Hacişahinoğulları | Onour Chasan | Gamze Bilik Oyman | Ümmü Mutlu | İsmail Sormaz | Gulsah Yalın | Nurdan Gül | Ayşe Kubat Uzum | Yasemin Giles Şenyürek | Özlem Soyluk Selçukbiricik

Yayıncı: Istanbul University

Ana Başlıklar: Clinical Sciences (Other)

Dergi: The Turkish Journal of Ear Nose and Throat Vol.34 Issue 3, pp.92-96

Belge Tipi: Makale

Yayın Tarihi: 9/2024

Belge Dili: İngilizce

Document ID (Org No.): 2001329969

pISSN: 2602-4837

Multiple Endocrine Neoplasia type Type 2A

MEN2A

Primary Hyperparathyroidism

Sayı

Yazarlar:

Hülya Hacişahinoğulları | Onour Chasan | Gamze Bilik Oyman | Ümmü Mutlu | İsmail Sormaz | Gulsah Yalın | Nurdan Gül | Ayşe Kubat Uzum | Yasemin Giles Şenyürek | Özlem Soyluk Selçukbiricik

Yayıncı:

Istanbul University

Ana Başlıklar:

Clinical Sciences (Other)

Dergi:

The Turkish Journal of Ear Nose and Throat Vol.34 Issue 3, pp.92-96

Belge Tipi:

Makale

Yayın Tarihi:

9/2024

Belge Dili:

İngilizce

Document ID (Org No.):

2001329969

pISSN:

2602-4837