Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature

Short stature in children can be caused by congenital pituitary disorders involving at least one form of growth hormone deficiency. Clinical and radiological evaluations of the index case and family history assessments are essential to guide genetic diagnostic testing and interpret results. The firs...

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Veröffentlicht in:Archives de pédiatrie : organe officiel de la Société française de pédiatrie Jg. 28; H. 8; S. 28/8S33 - 28/8S38
Hauptverfasser: Castets, S., Villanueva, C., Vergier, J., Brue, T., Saveanu, A., Reynaud, R.
Format: Journal Article
Sprache:Englisch
Veröffentlicht: Elsevier Masson SAS 01.02.2022
Schlagworte:
Genetics
Growth hormone deficiency
Hypopituitarism
NGS
Short Stature
WES
Short Stature
Genetics
NGS
Hypopituitarism
WES
Growth hormone deficiency
ISSN:0929-693X, 1769-664X, 1769-664X
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Zusammenfassung:Short stature in children can be caused by congenital pituitary disorders involving at least one form of growth hormone deficiency. Clinical and radiological evaluations of the index case and family history assessments are essential to guide genetic diagnostic testing and interpret results. The first-line approach is panel testing of genes involved in pituitary development with variants known to be pathogenic in this context. It identifies a genetic cause in less than 10% of cases, however. Whole-exome and whole-genome sequencing techniques may provide original information but also raise new questions regarding the pathophysiological role of identified variants. These new tools can make genetic counselling more complex. The role of clinicians in these interpretations is therefore important. © 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
Bibliographie:ObjectType-Article-1
SourceType-Scholarly Journals-1
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ISSN:0929-693X
1769-664X
1769-664X
DOI:10.1016/S0929-693X(22)00041-0