Seudohipoparatiroidismo: enfermedad huérfana en endocrinología. Reporte de un caso

Translated title of the contribution: Pseudohypoparathyroidism: an endocrine orphan disease. Case report

Cándida Díaz-Brochero, Ana María González-Villa, Diana Carolina Diaz-Tribaldos, Jhon Peralta-Franco Peralta Franco, Juan Manuel Arteaga-Díaz

Research output: Contribution to journalArticlepeer-review

Abstract

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by resistance to the parathyroid hormone. There are few reports on PHP in Colombia, so the publication of the present case contributes to increase the interest in its research in the clinical setting.

Case presentation: An 18-year-old male with a history of hypothyroidism diagnosed at 4 months of age, stunted growth, delayed puberty, obesity, brachydactyly, pathologic fractures, femoral osteochondroma, insomnia, paresthesia, and chronic constipation was referred to the endocrinology service of a tertiary care center in Bogotá (Colombia) after being hospitalized following a seizure episode. On admission, laboratory tests revealed hypocalcemia, hyperphosphatemia, 25-hydroxy vitamin D in the range of insufficiency and elevated PTH. Imaging studies showed heterotopic ossifications and calcifications of the basal ganglia. A genetic study confirmed the diagnosis of PHP1A, so treatment was started with calcium, cholecalciferol and phosphorus chelators, leading to a satisfactory course. Both the patient and his first-degree relatives received genetic counseling and interdisciplinary assessment.

Conclusion: Although PHP type 1A is an unrecognized complex genetic disorder, it has a critical clinical importance within the differential diagnoses of hypocalcemia. Without prompt diagnosis and treatment, patients may experience serious and potentially fatal metabolic consequences.
Translated title of the contributionPseudohypoparathyroidism: an endocrine orphan disease. Case report
Original languageSpanish
Pages (from-to)1-13
Number of pages13
JournalCase reports
Volume8
Issue number2
DOIs
StatePublished - 14 Feb 2023

Keywords

  • Hypocalcemia
  • Parathyroid Hormone
  • Pseudohypoparathyroidism

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