Problemi speciali
Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti
Short stature due to SHOX gene deficiency: old and new insights
Maria Chiara Pellegrin1, Stefanny Andrade2, Elena Faleschini1, Egidio Barbi1,2, Carla Bizzarri3, Gianluca Tornese1
1IRCCS Materno-Infantile “Burlo Garofolo”, Trieste
2Università di Trieste
3IRCCS Ospedale Pediatrico “Bambino Gesù”, Roma
Settembre 2019 - pagg. 438 -444
Abstract
At the moment alterations of SHOX gene, located in the pseudoautosomal region of sex
chromosomes, are considered the most frequent genetic defects associated with short stature.
Pathogenic mutations leading to SHOX deficiency involve not just exons, but also
enhancer regions (affected in almost half of the cases) and follow an autosomal dominant
inheritance pattern. Independently of the mutation, clinical severity varies between genders
and ranges from idiopathic short stature to severe mesomelic skeletal dysplasia.
Growth hormone is a valid treatment option to promote growth in this condition. In this
article, current knowledge on manifestations, diagnosis and treatment of SHOX deficiency
in children is summarised by a clinical case.
Classificazione MeSH
Contenuto riservato
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Corrispondenza: mariachiara.pellegrin@gmail.com