However, normal skeletal growth and development depends on multiple factors and can be affected by numerous genetic anomalies, including many that are not associated with the GH–IGF-I axis. The synthesis and release of gonadotropins by the pituitary, and the increases in sex steroid, GH and IGF-I concentrations, become significant throughout puberty, and the pubertal growth spurt continues until near-adult height is reached. During childhood, the hypothalamic-pituitary control of the synthesis and release of growth hormone (GH), and the effects of the GH–insulin-like growth factor (IGF)-I axis on tissues throughout the body, becomes increasingly important in determining height growth. During the fetal stage it is mainly controlled by insulin and growth factors and is affected by maternal health, nutrition and placental function growth failure at this stage results in a baby being born small for gestational age. Human linear growth continues from the embryonic stage through to adolescence and early adulthood. The intention of genetic testing should be to direct the clinical options for management of the growth disorder. The decision to carry out genetic testing should be directed by the clinical process, not merely for research purposes. Specific processes should be followed for decisions on which patients require genetic testing and which genes should be examined for anomalies. In patients with overgrowth in combination with an intellectual disability, two predominant gene families, the epigenetic regulator genes, and PI3K/AKT pathway genes, have now been identified. A number of genetic anomalies have also been shown to be associated with overgrowth, some of which involve the GH–IGF-I axis. While genetic causes of short stature were previously thought to primarily be associated with the GH–IGF-I axis, it is now established that multiple genetic anomalies not associated with the GH–IGF-I axis can result in short stature. For patients with short stature, multiple genes have been identified that result in GH deficiency, which may be isolated or associated with additional pituitary hormone deficiencies, or in growth hormone resistance, primary insulin-like growth factor (IGF) acid-labile subunit deficiency, IGF-I deficiency, IGF-II deficiency, IGF-I resistance, and primary PAPP-A2 deficiency. Curiosity in Genetic Diagnosis of Growth Disorders, which examined current concepts of genetics and growth in the clinical setting, in terms of both growth failure and overgrowth. The second 360° European Meeting on Growth Hormone Disorders, held in Barcelona, Spain, in June 2017, included a session entitled Pragmatism vs. 4Department of Pediatrics, University of Leipzig, Leipzig, Germany.3Global Medical Affairs, Merck Healthcare KGaA, Darmstadt, Germany.
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