Genetic causes of isolated short stature
Arch. endocrinol. metab. (Online)
; 63(1): 70-78, Jan.-Feb. 2019. tab, graf
Article
en En
| LILACS
| ID: biblio-989290
Biblioteca responsable:
BR1.1
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Variación Genética
/
Estatura
/
Factor I del Crecimiento Similar a la Insulina
/
Hormona de Crecimiento Humana
/
Trastornos del Crecimiento
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
En
Revista:
Arch. endocrinol. metab. (Online)
Asunto de la revista:
ENDOCRINOLOGIA
/
METABOLISMO
Año:
2019
Tipo del documento:
Article
País de afiliación:
Brasil