Abstract
We present a case series of pseudohypoparathyroidism type 1A (PHP1A) from a single family characterized by a notable pattern of inheritance and intrafamilial variability. The affected siblings exhibited clinical manifestations of PHP1A, including short stature, skeletal abnormalities, and hypocalcemia. Clinical exome sequencing revealed heterozygous inactivating mutations in the GNAS gene, leading to haploinsufficiency of the functional GNAS gene product. The proband, a 14-year-old male patient, demonstrated features such as short stature, obesity, skeletal anomalies, hypocalcemia, and hypothyroidism. The 12-year-old female sibling presented with bone pains, and carpopedal spasm with hypocalcemia without hypothyroidism. The mother had short 3rd and 4th metacarpals (Archibald sign), but biochemical profile was normal. This case report highlights the complex endocrine abnormalities and biochemical imbalances associated with PHP1A, emphasizing the genetic nature and variable expression of the disorder within the family.
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