Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions
Kiuchi Z, Reyes M, Hanna P, Sharma A, DeClue T, Olney R, Tebben P, Jüppner H. Progression of PTH Resistance in Autosomal Dominant Pseudohypoparathyroidism Type Ib Due to Maternal STX16 Deletions. The Journal Of Clinical Endocrinology & Metabolism 2021, 107: e681-e687. PMID: 34477200, PMCID: PMC8899049, DOI: 10.1210/clinem/dgab660.Peer-Reviewed Original ResearchConceptsAutosomal dominant pseudohypoparathyroidism type IbSTX16 deletionPseudohypoparathyroidism type IbParathyroid hormoneYears of ageAD-PHP1BDisease-causing variantsFemale carriersMeasurement of parathyroid hormoneGNAS exon A/BPretreatment laboratory resultsElevated PTH levelsParathyroid hormone resistanceParathyroid hormone levelsSerum calcium levelsThyrotropin (TSHType IbExon A/BOvert hypocalcemiaPTH resistancePTH levelsTSH levelsCalcium abnormalitiesPrompt treatmentLoss of methylation