PMID- 36911651
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20230314
IS  - 2050-0904 (Print)
IS  - 2050-0904 (Electronic)
IS  - 2050-0904 (Linking)
VI  - 11
IP  - 3
DP  - 2023 Mar
TI  - Multiple endocrine neoplasia type 1 familial case in a patient with insulinoma 
      and primary hyperparathyroidism: First report in literature and in the Costa 
      Rican population of the c.1224_1225insGTCC pathogenic variant.
PG  - e7041
LID - 10.1002/ccr3.7041 [doi]
LID - e7041
AB  - Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder 
      without a good genotype-phenotype correlation, characterized by tumor 
      predisposition in the parathyroid gland, anterior pituitary, and pancreatic islet 
      cells. Here, we describe a 37-year-old male with previous history of 
      nephrolithiasis, with a 1-year history of recurrent hypoglycemic episodes. 
      Physical examination revealed the presence of two lipomas. Family history 
      revealed primary hyperparathyroidism (PHPT), hyperprolactinemia, and multiple 
      non-functioning pancreatic neuroendocrine tumors. Initial laboratories revealed 
      hypoglycemia and primary hyperparathyroidism. A fasting test was positive after 
      3 hours of initiation. An abdominal CT Scan demonstrated a 28 x 27 mm mass in the 
      pancreatic tail and bilateral nephrolithiasis. A distal pancreatectomy was done. 
      After surgery, the patient persisted with hypoglycemic episodes that were managed 
      with diazoxide and frequent feedings. A parathyroid Tc-99 m MIBI scan with 
      SPECT/CT imaging demonstrated two hot uptake lesions compatible with abnormally 
      functioning parathyroid tissue. Surgical treatment was offered; however, the 
      patient decided to postpone the procedure. Direct sequence analysis of MEN1 gene 
      revealed heterozygosity for a pathogenic insertion c.1224_1225insGTCC 
      (p.Cys409Valfs*41). DNA sequence analysis was done to six of his first-degree 
      relatives. A sister with clinical diagnosis of MEN1 and a pre-symptomatic brother 
      were positive for the same MEN1 variant. To our knowledge, this is the first 
      report of a genetically confirmed case of MEN1 in our country and is the first 
      report in literature of the c.1224_1225insGTCC variant related to a clinically 
      affected family.
CI  - (c) 2023 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
FAU - Molina-Cespedes, Paula
AU  - Molina-Cespedes P
AD  - Escuela de Medicina Universidad de Costa Rica San Jose Costa Rica.
FAU - Ruiz-Golcher, Ernesto Jose
AU  - Ruiz-Golcher EJ
AD  - Escuela de Medicina Universidad de Costa Rica San Jose Costa Rica.
FAU - Badilla-Barboza, Oscar
AU  - Badilla-Barboza O
AD  - Medico Endocrinologo Hospital San Juan de Dios San Jose Costa Rica.
FAU - Sedo-Mejia, Giovanni
AU  - Sedo-Mejia G
AD  - Unidad de Alergologia Hospital San Juan de Dios San Jose Costa Rica.
FAU - Barboza-Rodriguez, Laura
AU  - Barboza-Rodriguez L
AD  - Servicio de Anatomia Patologica Hospital San Juan de Dios San Jose Costa Rica.
FAU - Badilla-Porras, Ramses
AU  - Badilla-Porras R
AUID- ORCID: 0000-0001-9209-1779
AD  - Servicio de Genetica y Metabolismo Hospital Nacional de Ninos San Jose Costa 
      Rica.
LA  - eng
PT  - Case Reports
DEP - 20230308
PL  - England
TA  - Clin Case Rep
JT  - Clinical case reports
JID - 101620385
PMC - PMC9994136
OTO - NOTNLM
OT  - endocrine and metabolic disorders
OT  - familial
OT  - genetics
OT  - hypoglycemia
OT  - insulinoma
OT  - multiple endocrine neoplasia
OT  - nephrolithiasis
OT  - oncology
OT  - primary hyperparathyroidism
COIS- The authors certify that they have no affiliations with or involvement in any 
      organization or entity with any financial interest (such as honoraria, 
      educational grants, participation in speakers' bureaus, membership, employment, 
      consultancies, stock ownership, or other equity interest; and expert testimony or 
      patent-licensing arrangements), or non-financial interest (such as personal or 
      professional relationships, affiliations, knowledge, or beliefs) in the subject 
      matter or materials discussed in this manuscript.
EDAT- 2023/03/14 06:00
MHDA- 2023/03/14 06:01
PMCR- 2023/03/08
CRDT- 2023/03/13 04:28
PHST- 2020/06/07 00:00 [received]
PHST- 2023/01/27 00:00 [revised]
PHST- 2023/02/13 00:00 [accepted]
PHST- 2023/03/13 04:28 [entrez]
PHST- 2023/03/14 06:00 [pubmed]
PHST- 2023/03/14 06:01 [medline]
PHST- 2023/03/08 00:00 [pmc-release]
AID - CCR37041 [pii]
AID - 10.1002/ccr3.7041 [doi]
PST - epublish
SO  - Clin Case Rep. 2023 Mar 8;11(3):e7041. doi: 10.1002/ccr3.7041. eCollection 2023 
      Mar.