“Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”

Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. He...

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Main Authors: Gerdi Tuli, Jessica Munarin, Daniele Tessaris, Raffaele Buganza, Patrizia Matarazzo, Luisa De Sanctis
Format: Article
Language:English
Published: Wiley 2021-01-01
Series:Case Reports in Endocrinology
Online Access:http://dx.doi.org/10.1155/2021/5539349
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author Gerdi Tuli
Jessica Munarin
Daniele Tessaris
Raffaele Buganza
Patrizia Matarazzo
Luisa De Sanctis
author_facet Gerdi Tuli
Jessica Munarin
Daniele Tessaris
Raffaele Buganza
Patrizia Matarazzo
Luisa De Sanctis
author_sort Gerdi Tuli
collection DOAJ
description Primary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. Herein, we report two cases of PHPT in pediatric age with different presenting symptoms, pain in the foot, and progressive alteration of the gait in the first case and recurrent abdominal pain with emotional lability in the second. Biochemical and radiological assessment confirmed PHPT. Both cases were treated surgically as definitive treatment, but in the second case, previous medical treatment with cinacalcet, a calcimimetic agent, was required to reduce serum PTH and calcium levels. After surgery, despite conventional treatment with calcium and calcitriol, case 1 developed a hungry bone syndrome. The analysis of the MEN-1 (Multiple Endocrine Neoplasia) gene was negative in both cases. A diagnosis of PHPT should be considered when children or adolescents present bone pain with radiological imaging of osteolytic lesion and biochemical feature of hypercalcemia associated with hypophosphatemia. In PHPT, the gold standard treatment is represented by surgery followed by strict postoperative endocrine monitoring to maintain adequate homeostasis of calcium and bone metabolism.
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spelling doaj-art-22963409f2b34022860f96479439a4d02025-02-03T00:58:50ZengWileyCase Reports in Endocrinology2090-65012090-651X2021-01-01202110.1155/2021/55393495539349“Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”Gerdi Tuli0Jessica Munarin1Daniele Tessaris2Raffaele Buganza3Patrizia Matarazzo4Luisa De Sanctis5Department of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyDepartment of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyDepartment of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyDepartment of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyDepartment of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyDepartment of Pediatric Endocrinology, Regina Margherita Children’s Hospital of Turin, Turin, ItalyPrimary hyperparathyroidism (PHPT) is a rare disorder in children and adolescents. Typical biochemical features are hypercalcemia and hypophosphatemia, but the clinical features can be heterogeneous, and in some cases, symptoms are vague and nonspecific, leading to misdiagnosis or late diagnosis. Herein, we report two cases of PHPT in pediatric age with different presenting symptoms, pain in the foot, and progressive alteration of the gait in the first case and recurrent abdominal pain with emotional lability in the second. Biochemical and radiological assessment confirmed PHPT. Both cases were treated surgically as definitive treatment, but in the second case, previous medical treatment with cinacalcet, a calcimimetic agent, was required to reduce serum PTH and calcium levels. After surgery, despite conventional treatment with calcium and calcitriol, case 1 developed a hungry bone syndrome. The analysis of the MEN-1 (Multiple Endocrine Neoplasia) gene was negative in both cases. A diagnosis of PHPT should be considered when children or adolescents present bone pain with radiological imaging of osteolytic lesion and biochemical feature of hypercalcemia associated with hypophosphatemia. In PHPT, the gold standard treatment is represented by surgery followed by strict postoperative endocrine monitoring to maintain adequate homeostasis of calcium and bone metabolism.http://dx.doi.org/10.1155/2021/5539349
spellingShingle Gerdi Tuli
Jessica Munarin
Daniele Tessaris
Raffaele Buganza
Patrizia Matarazzo
Luisa De Sanctis
“Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
Case Reports in Endocrinology
title “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
title_full “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
title_fullStr “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
title_full_unstemmed “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
title_short “Primary Hyperparathyroidism (PHPT) in Children: Two Case Reports and Review of the Literature”
title_sort primary hyperparathyroidism phpt in children two case reports and review of the literature
url http://dx.doi.org/10.1155/2021/5539349
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