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Article Dans Une Revue ARCHIVES DE PEDIATRIE Année : 2022

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

Résumé

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.

Domaines

Génétique
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Dates et versions

hal-03780225 , version 1 (14-02-2023)

Identifiants

  • HAL Id : hal-03780225 , version 1

Citer

S. Castets, C. Villanueva, J. Vergier, Thierry Brue, Alexandru Saveanu, et al.. Clinical, radiological, and molecular diagnosis of congenital pituitary diseases causing short stature. ARCHIVES DE PEDIATRIE, 2022, 28 (8, 1). ⟨hal-03780225⟩
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