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Published on: July 14, 2023
Pseudohypoparathyroidism with diabetes mellitus and hypothyroidism
Bedangshu Saikia1, Sunaina Arora, Jacob M Puliyel
1Department of Pediatrics, St Stephens Hospital, Tis Hazari, Delhi, India. bedangshu@gmail.com
Insights
This study details a child with pseudohypoparathyroidism (PHP) who developed type 1 diabetes mellitus (T1DM). This is the first reported association between PHP and T1DM, highlighting a potential new link in G protein pathway disorders.
Area of Science:
- Endocrinology
- Genetics
- Metabolic Disorders
Background:
- Pseudohypoparathyroidism (PHP) is a genetic disorder affecting G protein signaling.
- PHP is characterized by resistance to parathyroid hormone (PTH), leading to hypocalcemia.
- Maternal history of pseudopseudohypoparathyroidism suggests a familial genetic component.
Abstract:
We report a 12-year-old child with pseudohypoparathyroidism (PHP) whose mother had pseudopseudohypoparathyroidism. The child had low serum calcium, high phosphorous and high parathormone (PTH) levels. PHP occurs due to a defect in the guanine nucleotide binding protein (G protein). She also had hypothyroidism which is known to utilize the G protein pathway. She developed T 1 diabetes mellitus (T1DM) while under follow-up. This is arguably the first time T1DM has been reported associated with PHP.
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