Intrauterine hyperparathyroidism is a self-limited condition seen in the neonate born of a mother with poorly controlled hypoparathyroidism. In this report, we describe the histologic findings in bone and parathyroids in twin infants with this condition who died from other causes. The skeleton showed osteopenia with evidence of increased bone turnover and defective mineralization, and there was parathyroid gland hyperplasia of the water-clear cell type. One twin died at birth, and the histologic findings were indistinguishable from those of infantile primary hyperparathyroidism; but the second twin, dying at 3 months of age, demonstrated noticeable improvement in the bone and parathyroid abnormalities.

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Article Synopsis
  • A female neonate born to consanguineous parents exhibited severe hyperparathyroidism (NSHPT) after a C-section, showing signs of respiratory distress and skeletal abnormalities following birth.
  • Diagnostic challenges included elevated calcium levels and a homozygous variant in the calcium-sensing receptor (CaSR) gene, leading to the establishment of NSHPT.
  • Management of NSHPT is critical due to its high mortality risk; treatment options typically involve addressing the high calcium levels and associated metabolic issues.
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Primary hyperparathyroidism (PHPT) is characterized by elevated levels of calcium and parathyroid hormone (PTH). However, the interpretation of diagnostic tests, such as serum calcium and PTH levels, is complex in pregnant women. The aim of this report is to present a case of PHTP in a pregnant adolescent, with a special emphasis on an uncommon complication, as well as diagnostic and treatment strategies.

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Challenges in the management of hypercalcemia in pregnancy - Case report of two cases.

Case Rep Womens Health

March 2024

Department of Maternal Fetal Medicine, KK Women's and Children's Hospital, 100 Bukit Timah Road, 299899, Singapore.

Hypercalcemia in pregnancy is rare and can pose a great diagnostic challenge due to its asymptomatic presentation. It is associated with maternal complications such as urolithiasis, pancreatitis, renal insufficiency and preeclampsia, fetal complications such as growth restriction and intrauterine fetal demise, and neonatal complications such as neonatal hypocalcemia, tetany and hypoparathyroidism. Prompt diagnosis and treatment of the underlying cause of hypercalcemia is important.

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[Diagnosis and management of primary hyperparathyroidism during pregnancy: A systematic review and a longitudinal case study].

Gynecol Obstet Fertil Senol

December 2023

CHU de Brugmann, place A.-Van-Gehuchten 4, 1020 Bruxelles, Belgique.

Objective: There is no specific recommendation for management in pregnant women: the aim of this review, based on a clinical case study, is to clarify its development, complications, risk factor and treatment.

Methods: A review of the literature was performed by consulting the Pubmed, Cochrane Library, and Science Direct databases.

Results: Primary hyperparathyroidism is defined as excessive production of parathyroid hormone resulting in hypercalcemia.

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