Pituitary stalk interruption syndrome due to novel
central diabetes insipidus
combined pituitary hormone deficiency
pituitary stalk interruption syndrome
roundabout receptor-1 gene
Journal
Journal of pediatric endocrinology & metabolism : JPEM
ISSN: 2191-0251
Titre abrégé: J Pediatr Endocrinol Metab
Pays: Germany
ID NLM: 9508900
Informations de publication
Date de publication:
07 Mar 2024
07 Mar 2024
Historique:
received:
08
12
2023
accepted:
18
02
2024
medline:
6
3
2024
pubmed:
6
3
2024
entrez:
6
3
2024
Statut:
aheadofprint
Résumé
The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene ( We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the We conclude and emphasize that
Identifiants
pubmed: 38444307
pii: jpem-2023-0541
doi: 10.1515/jpem-2023-0541
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2024 Walter de Gruyter GmbH, Berlin/Boston.
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