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Pseudohypoparathyroidism type 1b with hypothyroidism.

Rajesh Joshi1, Muznah Kapdi

  • 1Department of Pediatrics, BJ Wadia Hospital for Children, Parel, Mumbai. rrj23@rediffmail.com

Indian Pediatrics
|September 11, 2012
PubMed
Summary

Pseudohypoparathyroidism, a condition of end-organ resistance to parathyroid hormone (PTH), presents with low calcium and high phosphate. A rare case highlights hypothyroidism development in a child with pseudohypoparathyroidism type 1b.

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Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Pseudohypoparathyroidism (PHP) involves end-organ resistance to parathyroid hormone (PTH), leading to hypocalcemia, hyperphosphatemia, and elevated serum PTH.
  • Albright's hereditary osteodystrophy (AHO) is a common phenotype associated with PHP, characterized by specific physical features.

Observation:

  • This report details a case of an 8-year-old girl diagnosed with pseudohypoparathyroidism.
  • The patient presented without the typical features of Albright's hereditary osteodystrophy.
  • During a two-year follow-up, the child developed hypothyroidism.

Findings:

  • The development of hypothyroidism in this patient is a notable and uncommon clinical manifestation.
  • This occurrence is particularly significant in the context of pseudohypoparathyroidism type 1b.

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  • The case underscores the variable clinical spectrum of PHP, even within specific subtypes.

    • Implications:

    • This case expands the known clinical spectrum of pseudohypoparathyroidism type 1b.
    • It highlights the importance of monitoring for associated endocrine disorders, such as hypothyroidism, in PHP patients.
    • Further research may elucidate the genetic or molecular mechanisms linking PHP type 1b and hypothyroidism.