Castets S, Villanueva C, Vergier J, Brue T, Saveanu A, Reynaud R
Assistance Publique-Hôpitaux de Marseille (AP-HM), Hôpital Timone Enfants, Service de Pédiatrie Multidisciplinaire, Marseille, France; Centre de Référence des Maladies Rares de l'Hypophyse HYPO, Marseille, France.
Hospices Civils de Lyon (HCL), Hôpital Femme Mère Enfant (HFME), Service d'Endocrinologie pédiatrique, Bron, France; Centre de Référence des Maladies Rares de l'Hypophyse HYPO, Marseille, France.
Arch Pediatr. 2022 Feb;28(8S1):8S33-8S38. doi: 10.1016/S0929-693X(22)00041-0.
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.
儿童身材矮小可能由涉及至少一种生长激素缺乏形式的先天性垂体疾病引起。对索引病例进行临床和放射学评估以及家族史评估对于指导基因诊断检测和解释结果至关重要。一线方法是对参与垂体发育的基因进行面板检测，检测已知在此情况下具有致病性的变异。然而，它在不到10%的病例中确定了遗传原因。全外显子组和全基因组测序技术可能会提供原始信息，但也会引发关于已识别变异的病理生理作用的新问题。这些新工具会使遗传咨询变得更加复杂。因此，临床医生在这些解释中的作用很重要。© 2022年法国儿科学会。由爱思唯尔马松出版社出版。保留所有权利。
