Short stature and dysmorphology associated with defects in the SHOX gene

Sofia K. Leka, Sofia Kitsiou-Tzeli, Ariadni Kalpini-Mavrou, Emmanuel Kanavakis

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Since its discovery in 1997, knowledge about the SHOX gene (Short stature HOmeoboX-containing gene) has rapidly advanced. Although originally described as causing idiopathic short stature, SHOX mutations are also responsible for growth retardation in Lιri-Weill dyschondrosteosis, Langer mesomelic dysplasia and Turner syndrome…

Long-term growth hormone treatment in a boy with 45,X/46,X,idic(Yp) mixed gonadal dysgenesis: comparison with growth pattern of an untreated patient

Silvano Bertelloni, Eleonora Dati, Angelo Valetto, Veronica Bertini, Alfredo Danti, Giampiero I. Baroncelli

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BACKGROUND: Mixed gonadal dysgenesis (MGD) is a rare disorder. Short stature is a well known feature of this condition. Although growth hormone (GH) treatment has been suggested to treat growth impairment, conflicting data surround this issue …