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Pseudohypoparathyrodism vs. tricho-rhino-phalangeal syndrome: patient reclassification.
MedLine Citation:
PMID:  24945424     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Abstract Objectives: Given that tricho-rhino-phalangeal syndrome (TRPS) and pseudohypoparathyroidism/pseudopseudohypoparathyroidism (PHP/PPHP) are very rare monogenic disorders that share some features (distinctive facies, short stature, brachydactyly and, in some patients, intellectual disability) that lead to their misdiagnosis in some cases, our objective was to identify clinical, biochemical or radiological signs that could help to distinguish these two syndromes. Methods and results: We report on two cases, which were referred to the Endocrinology and Pediatric Endocrinology Services for obesity. Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) resistance] and PPHP (phenotype resembling AHO, without PTH resistance), but (epi)genetic analysis of the GNAS locus ruled out the suspected diagnosis. Further clinical re-evaluation prompted us to suspect TRPS, and this was confirmed genetically. Conclusion: TRPS was mistakenly identified as PHP/PPHP because of the coexistence of obesity and brachydactyly, with PTH resistance in one of the cases. Specific traits such as sparse scalp hair and a pear-shaped nose, present in both cases, can be considered pathognomonic signs of TRPS, which could help us to reach a correct diagnosis.
Authors:
Arrate Pereda; Sharona Azriel; Mariona Bonet; Intza Garin; Blanca Gener; Beatriz Lecumberri; Guiomar Pérez de Nanclares
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-6-19
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  -     ISSN:  2191-0251     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2014 Jun 
Date Detail:
Created Date:  2014-6-19     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
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