Syndromic Disorders with Short Stature

ŞIKLAR Z., BERBEROĞLU M.

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, vol.6, no.1, pp.1-8, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 6 Issue: 1
  • Publication Date: 2014
  • Doi Number: 10.4274/jcrpe.1149
  • Journal Name: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1-8
  • Keywords: Short stature, Noonan syndrome, Prader-Willi syndrome, Aarskog syndrome, Silver-Russell syndrome, GROWTH-HORMONE TREATMENT, PRADER-WILLI-SYNDROME, NOONAN SYNDROME, SILVER-RUSSELL, BODY-COMPOSITION, CLINICAL-FEATURES, AARSKOG-SYNDROME, ADULT HEIGHT, FINAL HEIGHT, CHILDREN
  • Ankara University Affiliated: Yes

Abstract

Short stature is one of the major components of many dysmorphic syndromes. Growth failure may be due to a wide variety of mechanisms, either related to the growth hormone (GH)/insulin-like growth factor axis or to underlying unknown pathologies. In this review, the relatively more frequently seen syndromes with short stature (Noonan syndrome, Prader-Willi syndrome, Silver-Russell syndrome and Aarskog-Scott syndrome) were discussed. These disorders are associated with a number of endocrinopathies, as well as with developmental, systemic and behavioral issues. At present, GH therapy is used in most syndromic disorders, although long-term studies evaluating this treatment are insufficient and some controversies exist with regard to GH dose, optimal age to begin therapy and adverse effects. Before starting GH treatment, patients with syndromic disorders should be evaluated extensively.