title: Nonclassic features of pseudohypoparathyroidism type 1A.
abstract: OBJECTIVE
  To provide readers with a review of contemporary literature describing the evolving understanding of the pseudohypoparathyroidism type 1A (PHP1A) phenotype.
  
  
  RESULTS
  The classic features of PHP1A include multihormone resistance and the Albright Hereditary Osteodystrophy phenotype (round facies, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity. Obesity may be because of a decrease in resting energy expenditure because most patients do not report significant hyperphagia. Patients with PHP1A have an increased risk of type 2 diabetes. In addition to brachydactyly and short stature, orthopedic complications can include spinal stenosis and carpal tunnel syndrome. Hearing loss, both sensorineural and conductive, has been reported in PHP1A. In addition, ear-nose-throat findings include decreased olfaction and frequent otitis media requiring tympanostomy tubes. Sleep apnea was shown to be 4.4-fold more common in children with PHP1A compared with other obese children; furthermore, asthma-like symptoms have been reported. These new findings are likely multifactorial and further research is needed to better understand these nonclassic features of PHP1A.
  
  
  CONCLUSIONS
  Along with the Albright Hereditary Osteodystrophy phenotype and hormone resistance, patients with PHP1A may have additional skeletal, metabolic, ear-nose-throat, and pulmonary complications. Understanding these nonclassic features will help improve clinical care of patients with PHP1A.
authors.affiliation: aDivision of Pediatric Endocrinology, Vanderbilt University, Nashville, TN bEndocrine Unit and Pediatric Nephrology Unit, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
authors.forename: Ashley H
authors.initials: AH
authors.lastname: Shoemaker
authors.forename: Harald
authors.initials: H
authors.lastname: Jüppner
mesh_terms: D003924:Diabetes Mellitus, Type 2 / Q000150:complications; D004351:Drug Resistance; D004734:Energy Metabolism; D006728:Hormones; D006801:Humans; D009765:Obesity / Q000209:etiology; D010641:Phenotype; D011547:Pseudohypoparathyroidism / Q000175:diagnosis* / Q000235:genetics
chemical_list: D006728:Hormones