Turner syndrome – HORMONES (Archive)

Short stature and dysmorphology associated with defects in the SHOX gene

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

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…

Usefulness of phalangeal quantitative ultrasound in identifying reduced bone mineral status and increased fracture risk in adolescents with Turner syndrome

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Francesco Vierucci, Marta Del Pistoia, Paola Erba, Giovanni Federico, Giuseppe Saggese

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OBJECTIVE. Bone health is a major concern in patients with Turner syndrome (TS). There are few studies assessing bone mineral status in TS adolescents and none have reported a clear relationship with the risk of fracture. We assessed bone mineral status at three different skeletal sites by two different …