Primary Hyperparathyroidism (PHPT)

  • Definition of problem:
    • Primary hyperparathyroidism (PHPT):
      • Is the unregulated overproduction of parathyroid hormone (PTH) resulting in abnormal calcium homeostasis
  • Frequency:
    • Primary hyperparathyroidism is more common in women:
      • The incidence being:
        • 66 per 100,000 person-years in females
        • 25 per 100,000 person-years in males
    • In a large study of 3.5 million enrollees in Kaiser Permanente of Southern California:
      • The incidence fluctuated over time but was not seen to decrease substantially​
      • On the contrary, the prevalence of primary hyperparathyroidism saw a substantial increase in this population
    • The mean age at diagnosis has remained between:
      • 52 and 56 years
  • Etiology:
    • In approximately 85% to 90% of cases:
      • Primary hyperparathyroidism is caused by:
        • A single adenoma
    • In 15% of cases:
      • Multiple glands are involved:
        • Multiple adenomas:
          • Doble adenomas
          • Triple adenomas
        • Hyperplasia (4 glands)
    • Rarely, primary hyperparathyroidism is caused by parathyroid carcinoma
    • The etiology of adenomas or hyperplasia:
      • Remains unknown in most cases
    • Familial cases can occur as either part of the:
      • Multiple endocrine neoplasia syndromes (MEN 1 or MEN 2a)
      • Hyperparathyroid-jaw tumor (HPT-JT) syndrome
      • Familial isolated hyperparathyroidism (FIHPT)
      • Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism also belong to this category
    • The molecular genetic basis of MEN 1 (Wermer Syndrome):
      • Is an inactivating mutation of the MEN1 gene:
        • Located on chromosome band 11q13
    • MEN 2a is caused by a:
      • Germline mutation of the Ret proto-oncogene on chromosome 10. 
    • Germline mutation of HRPT2 localized on chromosome arm 1q:
      • Is responsible for HPT-JT
  • While FIHPT is genetically heterogeneous

#Arrangoiz #ParathyroidSurgeon #ParathyroidSurgeon #HeadandNeckSurgeon #EndocrineSurgery #Hyperparathyroidism #MSMC #MountSinaiMedicalCenter #Mexico #Miami

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