title: A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutations.
abstract: BACKGROUND
  Pseudohypoparathyroidism(PHP) is a heterogeneous group of rare metabolic disorders characterized by hypocalcemia and hyperphosphatemia resulting from PTH resistance. Different forms of PHP have been reported based on biochemical and clinical manifestation and genetic findings. Most of these forms are caused by defects in GNAS, an imprinted gene locus with multiple subunits. We reported a 12- year- old girl with unusual clinical manifestations of Pseudopseudohypoparathyroidism(PPHP).
  
  
  METHODS
  After clinical and biochemical evaluations, the patients' genomic DNA was isolated from peripheral blood leukocytes using salting out method. The whole coding sequences of GNAS gene including 13 exons were amplified by PCR. Quantitative PCR reactions were performed too.
  
  
  RESULTS
  We described a 12- year- old girl with Albright Hereditory osteodystrophy (AHO) phenotype, poor school performance, some abnormal movements, TSH resistance with normal serum calcium and phosphorus levels and normal Gsα bioactivity with no mutation in GNAS exons. Unusual neuropsychiatric findings in this patient were compatible with Asperger syndrome.
  
  
  CONCLUSIONS
  According to our findings this patient could not be categorized in any of PHP subgroups. Identifying of such individuals may be useful to discover different genetic patterns in pseudohypoparathyroidism and pseudopseudohypoparathyroidism. It is important to identify patients in whom PHP is caused by novel GNAS mutations, as careful investigations of these findings will likely further our knowledge of this complex and this unique disorder. In addition this case presented with unusual neuropsychiatric findings which has not been reported up to now.
authors: Obesity & Eating Habits Research Center, Endocrinology and metabolism Cellular & Molecular Science Institute, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran ; Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran ; Endocrinology & Metabolism Research Institute, 5th Floor, Shariati Hospital, North Kargar Ave., Tehran 14114, Iran.
authors: Shirin
authors: S
authors: Hasani-Ranjbar
authors: Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran.
authors: Zahra
authors: Z
authors: Jouyandeh
authors: Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran.
authors: Mahsa Mohammad
authors: MM
authors: Amoli
authors: Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran.
authors: Akbar
authors: A
authors: Soltani
authors: Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran.
authors: Seyed Masoud
authors: SM
authors: Arzaghi
keywords: Albright Hereditory osteodystrophy; GNAS mutation; Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism