A patient with features of albright hereditory osteodystrophy and unusual neuropsychiatric findings without coding Gsalpha mutations.

Autor: Hasani-Ranjbar S; 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., Jouyandeh Z; Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran., Amoli MM; Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran., Soltani A; Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran., Arzaghi SM; Endocrinology and Metabolism Research center, Endocrinology & Metabolism research institute, Tehran University of Medical Sciences, Tehran, Iran.
Jazyk: angličtina
Zdroj: Journal of diabetes and metabolic disorders [J Diabetes Metab Disord] 2014 May 22; Vol. 13, pp. 56. Date of Electronic Publication: 2014 May 22 (Print Publication: 2014).
DOI: 10.1186/2251-6581-13-56
Abstrakt: 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.
Findings: 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.
Databáze: MEDLINE
Externí odkaz: