Hereditary factors of body growth: decode with us and benefit from genetic insights

 

The size of a person is the result of complex processes. In addition to nutrition, genetic and ethnic influences, endocrine functions and other organic or psychosomatic factors also play a decisive role. Patients with disease-related growth disorders often have a syndrome, a skeletal disease or an isolated growth disorder, such as Silver-Russell syndrome, Marfan syndrome, achondroplasia, isolated growth hormone deficiency or SHOX deficiency. A precise diagnosis is often difficult, but is essential, especially with regard to prognosis and therapy. Monogenic defects in various signalling pathways or factors (e.g. hypothalamus-pituitary growth hormone signalling pathway), chromosomal aberrations as well as uniparental disomies (UPD) or epigenetic changes can be the basis for these growth disorders.

Our broad spectrum of analyses and procedures (NGS, single gene analyses, imprinting analyses, array CGH and cytogenetics) as well as experts with many years of experience in the various disciplines provide you with the best basis for the genetic diagnosis of your patients. In some cases the growth disorder can be treated with hormone therapy.

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