open access

Vol 68, No 6 (2017)
Review Article
Published online: 2017-11-30
Submitted: 2017-03-11
Accepted: 2017-05-23
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PAPP-A2 a new key regulator of growth

Magdalena Banaszak-Ziemska, Marek Niedziela
DOI: 10.5603/EP.a2017.0060
·
Pubmed: 29238946
·
Endokrynologia Polska 2017;68(6):682-691.

open access

Vol 68, No 6 (2017)
Review Article
Published online: 2017-11-30
Submitted: 2017-03-11
Accepted: 2017-05-23

Abstract

Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta­tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS). Two proteases important for the proper functioning of the GH/IGF axis: pregnancy-associated plasma protein-A (PAPP-A) and pregnancy-associated plasma protein-A2 (PAPP-A2), have been described. The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. This review evaluates the current data concerning PAPP-A2 function, and particularly the effect of PAPP-A2 mutation on growth.  

Abstract

Short stature is the main problem that paediatric endocrinologists have to grapple with. Endocrine disorders account for only 5% of patients with short stature, but this is still one of the most common causes of reports to the endocrine clinic and hospitalisation in the endocrine department. A properly functioning growth hormone/insulin-like growth factor (GH/IGF) axis is one of the most important factors in proper growth. A lot of genetic defects in this axis lead to syndromes marked by impaired growth, like Laron syndrome, muta­tions in the STAT5B, insulin-like growth factor 1 (IGF1), and insulin-like growth factor 1 receptor (IGF1R) and mutations in the acid labile subunit (ALS). Two proteases important for the proper functioning of the GH/IGF axis: pregnancy-associated plasma protein-A (PAPP-A) and pregnancy-associated plasma protein-A2 (PAPP-A2), have been described. The first description of the new syndrome of growth failure associated with mutation in the PAPP-A2 gene was given by Andrew Dauber et al. This review evaluates the current data concerning PAPP-A2 function, and particularly the effect of PAPP-A2 mutation on growth.  
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Keywords

growth, short stature, GH, IGF1, PAPP-A2

About this article
Title

PAPP-A2 a new key regulator of growth

Journal

Endokrynologia Polska

Issue

Vol 68, No 6 (2017)

Pages

682-691

Published online

2017-11-30

DOI

10.5603/EP.a2017.0060

Pubmed

29238946

Bibliographic record

Endokrynologia Polska 2017;68(6):682-691.

Keywords

growth
short stature
GH
IGF1
PAPP-A2

Authors

Magdalena Banaszak-Ziemska
Marek Niedziela

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