Genetic causes of isolated short stature

Autor(es)

Vasques, Gabriela A. ^{[1, 2]} ; Andrade, Nathalia L. M. ^{[1, 2]} ; Jorge, Alexander A. L. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo HCFMUSP, Fac Med, Hosp Clin, Unidade Endocrinol Genet LIM25, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo HCFMUSP, Fac Med, Hosp Clin, Unidade Endocrinol Desenvolvimento, Lab Hormonios, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: ARCHIVES OF ENDOCRINOLOGY METABOLISM; v. 63, n. 1, p. 70-78, JAN-FEB 2019.
• Citações Web of Science: 3

Resumo

ABSTRACT Short stature is a common feature, and frequently remains without a specific diagnosis after conventional clinical and laboratorial evaluation. Longitudinal growth is mainly determined by genetic factors, and hundreds of common variants have been associated to height variability among healthy individuals. Although isolated short stature may be caused by the combination of variants, with a deleterious impact on the growth of individuals with polygenic inheritance, recent studies have pointed out some monogenic defects as the cause of the growth disorder observed in nonsyndromic children. The majority of these defects are in genes related to the growth plate cartilage and in the growth hormone (GH) – insulin-like growth factor 1 (IGF-1) axis. Affected patients usually present the mildest spectrum of some forms of skeletal dysplasia, or subtle abnormalities of laboratory tests, suggesting hormonal resistance or insensibility. The lack of specific characteristics, however, does not allow formulation of a definitive diagnosis without the use of broad genetic studies. Thus, molecular genetic studies including panels of genes or exome analysis will become essential in investigating and identifying the causes of isolated short stature in children, with a crucial impact on treatment and follow-up. (AU)

• Processo FAPESP: 13/03236-5 - Novas abordagens e metodologias na investigação genético-molecular dos distúrbios de crescimento e desenvolvimento puberal
• Beneficiário: Alexander Augusto de Lima Jorge
• Modalidade de apoio: Auxílio à Pesquisa - Temático