ESPE Abstracts (2019) 92 S5.1

Novel Insights into Genetic Disorders of Growth

Jesús Argente

University Hospital Niño Jesús. Universidad Autónoma de Madrid, Madrid, Spain

Human growth is a very complex phenomenon that is influenced by genetic, hormonal, nutritional and environmental factors from fetal life throughout puberty. Although the GH-IGF axis clearly has a central role in this process, with specific actions on longitudinal growth, numerous other genes are also involved in determining stature. Indeed, genome-wide association studies have identified >600 variants associated with human height, but this still only explains a small fraction of phenotypic variation. Since short stature in childhood is a common reason for clinical referral, pediatric endocrinologists must be aware of the multifactorial and polygenic contributions to height. Multiple disorders characterized by growth failure of prenatal or postnatal onset due to single gene defects have been described. Their early diagnosis, facilitated by advances in genomic technologies, is of upmost importance for their clinical management and to provide genetic counseling. In this conference the current clinical and genetic information and new taxonomic classification regarding isolated GH deficiency, combined pituitary hormone deficiency, GH insensitivity and primary peripheral deficiencies including IGF1, IGFALS, IGF1R, IGF2 and PAPP-A2 will be reviewed. In addition, different syndromes with proportionate short stature as the main feature, including syndromes with short stature and microcephaly (Seckel syndrome spectrum disorders –SSSD-, microcephalic osteodysplastic primordial dwarfism –types I and II-, 3M syndrome, Meier-Gorlin syndrome) will be discussed. Special attention will be given to the recently described abnormalities in the genes RNPC3 and PAPP-A2. Two important questions that should be discussed among pediatric endocrinologists and genetists include: 1) Who should be tested for short stature and genetic alterations? and 2) What genetic techniques should be used for the best diagnosis? This conference will highlight these questions.

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