Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism

J Clin Endocrinol Metab. 2019 Mar 1;104(3):823-826. doi: 10.1210/jc.2018-01193.


Context: Type 1A pseudohypoparathyroidism (PHP-1A) is characterized by target organ resistance to PTH. Patients can present with various dysmorphic features; however, renal failure has not been classically described.

Case description: A female patient came to our attention at the age of 7 years with characteristic signs of PTH resistance (i.e., hypocalcemia, hyperphosphatemia, and high serum PTH levels). She also presented with hypothyroidism, early-onset obesity, short metacarpal bones, and multiple subcutaneous ossifications, leading to a clinical diagnosis of pseudohypoparathyroidism. In addition to her genetic condition, she had bilateral renal hypodysplasia that was slowly progressing to end-stage kidney disease. She received a kidney transplant at the age of 16 years and, after transplantation, experienced rapidly normalized calcium, phosphate, and PTH levels, allowing f withdrawal of vitamin D supplementation.

Conclusions: To the best of our knowledge, ours is the first report of a patient with PHP-1A undergoing kidney transplantation. Normalization of biochemical parameters after the procedure demonstrated that renal tubular resistance to PTH is sufficient to explain the calcium/phosphate abnormalities observed in PHP-1A.

Publication types

  • Case Reports

MeSH terms

  • Calcium / blood
  • Child
  • Chromogranins / genetics
  • Female
  • GTP-Binding Protein alpha Subunits, Gs / genetics
  • Humans
  • Kidney Transplantation
  • Kidney Tubules / physiopathology*
  • Parathyroid Hormone / blood*
  • Phosphates / blood
  • Pseudohypoparathyroidism / blood*
  • Pseudohypoparathyroidism / complications
  • Pseudohypoparathyroidism / genetics
  • Renal Insufficiency / blood
  • Renal Insufficiency / etiology
  • Renal Insufficiency / physiopathology*
  • Renal Insufficiency / surgery
  • Vitamin D / blood


  • Chromogranins
  • Parathyroid Hormone
  • Phosphates
  • Vitamin D
  • GNAS protein, human
  • GTP-Binding Protein alpha Subunits, Gs
  • Calcium