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…
Bessie E. Spiliotis, Theodore K. Alexandrides, Christoforos Karystianos, Pavlos Vassilakos, Zvi Zadik, Nikoleta M. Nikolakopoulou, George Nikiforidis, Nicholas G Beratis
OBJECTIVE: The aim of the study was to evaluate the IGF-I generation test (IGF-I gen) as a possible indirect test of Growth Hormone (GH) secretory status. METHODS: Sixty-five GH deficient (GHD 1 and 2) and 86 control children were studied …
Charilaos Stylianou, Assimina Galli-Tsinopoulou, Maria G. Grammatikopoulou, George Koliakos, George Varlamis
Objective: The exact role of ghrelin in the control of growth hormone (GH) secretion has not been completely clarified as yet. The aim of the present study was 1) to investigate the effect of a substance promoting GH secretion (clonidine) on ghrelin levels in children with short stature with growth hormone deficiency (GHD) and normal growth hormone …
Silvano Bertelloni, Giampiero I. Baroncelli, Eleonora Dati, Silvia Ghione, Fulvia Baldinotti, Benedetta Toschi, Paolo Simi
BACKGROUND: Short stature represents one of the main features of children with Noonan syndrome. The reason for impaired growth remains largely unknown. OBJECTIVE: To assess GH and IGF1 secretion in children with Noonan syndrome …
Assimina Galli-Tsinopoulou, Ioannis Kyrgios, Eleftheria Emmanouilidou, Ioanna Maggana, Eleni Kotanidou, Paraskevi Kokka, Charilaos Stylianou
Floating-Harbor Syndrome (FHS) is a very rare condition of unknown etiology characterized by short stature, delayed bone age, characteristic facial features, delayed language skills and usually normal motor development …
Silvano Bertelloni, Eleonora Dati, Angelo Valetto, Veronica Bertini, Alfredo Danti, Giampiero I. Baroncelli
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 …
Alexandra Efthymiadou, Eunice G. Stefanou, Dionisios Chrysis
45,X/46,XY mosaicism is associated with a broad spectrum of phenotypes ranging from apparently normal male development to individuals with incomplete sexual differentiation and clinical signs of Turner syndrome in both males and females. The most common presentation among individuals …