Settembre 2019 - Volume XXXVIII - numero 7

Medico e Bambino


Problemi speciali

Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti

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

Indirizzo per corrispondenza: mariachiara.pellegrin@gmail.com

Short stature due to SHOX gene deficiency: old and new insights

Key words: SHOX gene, Short stature, Léri-Weill dyschondrosteosis, Enhancer, Growth hormone

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.

Vuoi citare questo contributo?

M.C. Pellegrin, S. Andrade, E. Faleschini, E. Barbi, C. Bizzarri, G. Tornese Bassa statura da deficit di gene SHOX: vecchi e nuovi concetti. Medico e Bambino 2019;38(7):438 https://www.medicoebambino.com/?id=1908_438.pdf


L'accesso è riservato agli abbonati alla rivista che si siano registrati.
Per accedere all'articolo in formato full text è necessario inserire nella casella di login username e password.