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It Is Not Just the Growth Hormone-IGF-I Axis
Örebro universitet, Institutionen för medicinska vetenskaper.ORCID-id: 0000-0002-9986-8138
2018 (Engelska)Ingår i: Hormone Research in Paediatrics, ISSN 1663-2818, E-ISSN 1663-2826, Vol. 90, nr Suppl.1, s. 12-13Artikel i tidskrift, Meeting abstract (Övrigt vetenskapligt) Published
Abstract [en]

For decades, the dominant conceptual framework for understanding short and tall stature was centered on the GH-IGF-I axis. However, recent findings in basic molecular and cellular biology and in clinical genetics have uncovered a vast array of other regulatory systems that control skeletal growth and an accompanying vast array of genetic defects outside the GH-IGF-I axis that can cause disorders of linear growth. As a result, the traditional view of short or tall stature that is centered on the GH-IGF-I axis is now far too narrow to encompass the ever-growing number of defects that cause abnormal linear growth. A much broader conceptual framework can be based on the simple concept that linear growth disorders are necessarily due to dysfunction of the growth plate, the structure responsible for bone elongation and therefore overall body size. Consequently, short stature can more generally be conceptualized as a primary or secondary disorder of the growth plate chondrocytes. The wide array of genetic defects, many newly-discovered, that affect growth plate chondrocyte function and thereby cause childhood growth disorders will be reviewed. A novel concept that has emerged from recent findings is that sequence variants in a single gene can produce a phenotypic spectrum that ranges from a severe skeletal dysplasia to disproportionate or proportionate short stature, to normal variation in height, to tall stat-ure. The recent advances reviewed in this paper are steadily dimin-ishing the number of children who receive the unhelpful diagnoses of severe idiopathic short stature or tall stature.

Ort, förlag, år, upplaga, sidor
S. Karger, 2018. Vol. 90, nr Suppl.1, s. 12-13
Nationell ämneskategori
Endokrinologi och diabetes Pediatrik
Identifikatorer
URN: urn:nbn:se:oru:diva-69556ISI: 000445204100031OAI: oai:DiVA.org:oru-69556DiVA, id: diva2:1256560
Konferens
57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE 2018), Athens, Greece, September 27-29, 2018
Tillgänglig från: 2018-10-17 Skapad: 2018-10-17 Senast uppdaterad: 2018-10-17Bibliografiskt granskad

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