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Related Experiment Videos

Growth spurt hypocalcemia.

Kathryn L Wright1, Erawati V Bawle

  • 1Division of Adolescent Medicine, Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Wayne State University School of Medicine, Detroit, Michigan 48201, USA. kwright@med.wayne.edu

The Journal of Adolescent Health : Official Publication of the Society for Adolescent Medicine
|May 30, 2006
PubMed
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A young male experienced hypocalcemia during growth, which resolved with stable height. This case suggests a potential new form of Pseudohypoparathyroidism (PHP) in his family.

Area of Science:

  • Pediatric Endocrinology
  • Genetics
  • Metabolic Bone Disease

Background:

  • Pseudohypoparathyroidism (PHP) is a genetic disorder characterized by resistance to parathyroid hormone (PTH).
  • PHP typically presents with hypocalcemia and hyperphosphatemia, often diagnosed in childhood or adolescence.
  • Autosomal dominant forms of PHP, including PHP-Ib, are associated with genetic variations, potentially involving the GNAS locus.

Observation:

  • A healthy 12-year-old African-American male presented with symptomatic hypocalcemia during a significant growth spurt.
  • Clinical manifestations included hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) levels, consistent with PHP.
  • The patient's symptoms resolved after achieving stable adult height.

Findings:

  • The case presents a unique clinical course of hypocalcemia linked to growth phases.

Related Experiment Videos

  • Biochemical findings strongly indicate Pseudohypoparathyroidism (PHP).
  • A familial pattern suggests a possible unreported autosomal dominant form of PHP-Ib, potentially unrelated to the GNAS locus.

    • Implications:

    • This presentation expands the understanding of PHP's phenotypic variability and potential triggers like growth spurts.
    • Identifying novel genetic mutations in PHP-Ib could improve diagnostic accuracy and genetic counseling.
    • Further investigation into this family's genetics may uncover new insights into PTH resistance mechanisms and GNAS-independent PHP subtypes.