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J Endocrinol Invest. 2005;28(5 Suppl):30-7.

Genetic basis of short stature.

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Pediatric Endocrinology, Growth and Adolescence Unit, Department of Pediatrics, Clinical University Hospital and University of Santiago de Compostela, Santiago de Compostela, Spain.


Growth in humans is a complex process controlled by many genetic and non-genetic factors. It is influenced by endogenous factors like genetics, hormones and metabolism as well as exogenous ones like nutrition, physical activity and psychosocial status. Growth is one of the most sensitive markers of children's health, their nutritional status and genetic background. Besides, deviation from normality may be the first manifestation of an underlying congenital or acquired pathology. Thus, it is important to know the growth process and the disorder that can disturb it. Short stature is defined as a condition in which the height of an individual is more than 2 SD below the corresponding mean height for a given age, sex and population group. This disorder is a major concern for patients and their parents, and represents a diagnostic challenge to the clinician. A correct diagnosis is particularly important in view of the availability of effective, but costly, therapy in a small subset of cases. Cytogenetic and molecular analysis can be of great value in this diagnostic process. Emphasis can be made on the advances of molecular genetics, which have characterized human genes involved in the hypothalamus-pituitary-GH axis such as GH, POU1F1, PROP1, GHRHR, GHR, IGF, IGFR, HESX1, LHX3, LHX4, among others. Our current line of investigation is related to the study of some of these genes and the genotype-phenotype relation with the aim of identifying features that add some more light on the genetic origins of short stature.

[Indexed for MEDLINE]

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