Session: MON 596-630-Pediatric Endocrinology
Poster Board MON-607
Clinical Case: A 31 year old woman was referred to endocrine clinic for obesity. Her facial features, brachydactyly, shortening of II-V metacarpals and middle phalanges, short stature (-4DS), biochemical abnormalities confirmed (mildly elevated serum parathyroid with normal 25-OH-vitamin levels, low normal calcaemia) and GH deficiency with diminished response in 2 stimulation tests and low IGF-1 levels, maked us suspected pseudohypoparathyroidism type Ia, with presence of Albright's osteodystrophy's phenotype. We were unable to identify any genetic and epigenetic alterations at GNAS locus. Subsequently all exons of the TRPS1 gene were analyzed from genomic DNA and the analysis showed p.Arg944fsGly*3 mutation in heterocygous. The genetic study confirmed the diagnosis of TRPS. The pronounced shortening metacarpals and metatarsals and the short stature of the patient guide to TRPS type III.
Conclusion: TRPS should be considered in the differential diagnosis of other inherited diseases coursing with short stature, and brachydactyly and GH deficiency. Cone-shape epiphyseal radiologic changes are pathognomonic of TRPS. Calciotropic axis alterations have not been described so far in the TRPS. Genetic counselling is mandatory due to de AD inheritance, as well as the screening for cardiopathies, kidney diseases and hip osteonecrosis, often present in this syndrome
Nothing to Disclose: SA Sr., GP, AP
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