Multiple endocrine neoplasia type 1 in childhood and description of a novel variant
We highlight the pre-pubertal age of multiple endocrine neoplasia type 1 diagnosis, which is made before age 21 in only 12-17% of cases, and hypoglycemia secondary to insulinoma as the initial manifestation, differing from what is most frequently described, namely prolactinoma and parathyroid adenoma. The clinical diagnosis was made based on the occurrence of two primary endocrine tumors and confirmed through a next-generation sequencing panel, with a variant not previously described in ClinVar.
Authors
- Annelise Barrêto de Carvalho (ORCID: https://orcid.org/0000-0002-8707-9801)
- Milena Silva Sousa (ORCID: https://orcid.org/0000-0002-9413-5840)
- Rebeca Costa Castelo Branco (ORCID: https://orcid.org/0000-0002-6580-8145)
- Ana Paula Dias Rangel Montenegro (ORCID: https://orcid.org/0000-0002-8353-2912)
- Mayara Teixeira Alexandrino Sales (ORCID: https://orcid.org/0000-0002-8294-7227)
- Carlos Henrique Paiva Grangeiro (ORCID: https://orcid.org/0000-0002-4150-7612)
- Luciana Felipe Férrer Aragão (ORCID: https://orcid.org/0000-0001-5531-0952)
- Ana Rosa Pinto Quidute (ORCID: https://orcid.org/0000-0003-1876-6410)
Institutions
- Universidade Federal do Ceará (BR)
Publication Details
- Journal
- Revista Paulista de Pediatria
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1590/1984-0462/2025/43/2024175
- Citations
- 1
- Primary Topic
- Neuroendocrine Tumor Research Advances
- Type
- article
- Field-Weighted Citation Impact
- 1.35