Diagnostic and therapeutic approach of tall stature

Author(s)

Albuquerque, Edoarda V. A. ; Scalco, Renata C. ; Jorge, Alexander A. L.

• Document type: Review article
• Source: EUROPEAN JOURNAL OF ENDOCRINOLOGY; v. 176, n. 6, p. R339-R353, JUN 2017.
• Web of Science Citations: 12

Abstract

Tall stature is defined as a height of more than 2 standard deviations (s.d.) above average for same sex and age. Tall individuals are usually referred to endocrinologists so that hormonal disorders leading to abnormal growth are excluded. However, the majority of these patients have familial tall stature or constitutional advance of growth (generally associated with obesity), both of which are diagnoses of exclusion. It is necessary to have familiarity with a large number of rarer overgrowth syndromes, especially because some of them may have severe complications such as aortic aneurysm, thromboembolism and tumor predisposition and demand-specific follow-up approaches. Additionally, endocrine disorders associated with tall stature have specific treatments and for this reason their recognition is mandatory. With this review, we intend to provide an up-to-date summary of the genetic conditions associated with overgrowth to emphasize a practical diagnostic approach of patients with tall stature and to discuss the limitations of current growth interruption treatment options. (AU)

• FAPESP's process: 13/03236-5 - New approaches and methodologies in molecular-genetic studies of growth and pubertal development disorders
• Grantee: Alexander Augusto de Lima Jorge
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 16/03318-0 - Growth hormone and estrogen pharmacogenetics in patients with Turner Syndrome
• Grantee: Renata da Cunha Scalco Tirapeli
• Support Opportunities: Scholarships in Brazil - Post-Doctoral