PMID- 37895301
OWN - NLM
STAT- MEDLINE
DCOM- 20231030
LR  - 20231104
IS  - 2073-4425 (Electronic)
IS  - 2073-4425 (Linking)
VI  - 14
IP  - 10
DP  - 2023 Oct 17
TI  - Clinical Case Report of Non-Diabetic Hypoglycemia Due to a Combination of 
      Germline Mutations in the MEN1 and ABCC8 Genes.
LID - 10.3390/genes14101952 [doi]
LID - 1952
AB  - INTRODUCTION: Non-diabetic hypoglycemia (NDH) is a collective term including the 
      multiple causes of hypoglycemic syndrome not due to diabetes mellitus. NDH may 
      result from insulinoma, IGF-2-omas, hypocorticism, Hirata's disease, genital 
      disorders of glucose metabolism, etc. One of the most common causes of NDH faced 
      by an endocrinologist is insulinoma, which in turn can be part of the hereditary 
      syndrome of multiple endocrine neoplasia type 1 (MEN1). Congenital disorders of 
      glucose metabolism in adult patients, on the contrary, are diagnosed extremely 
      rarely, since they usually manifest in childhood. This article presents a unique 
      clinical case of a patient with NDH and genetically verified MEN1 in combination 
      with congenital hyperinsulinism due to an ABCC8 gene mutation. CASE REPORT: A 
      43-year-old patient with hypoglycemic symptoms from childhood is presented, in 
      whom multiple pancreatic tumors and fluctuations in glycemia from 38.7 mg/dL to 
      329.7 mg/dL (2.15 to 18.3 mmol/L) were detected in adulthood, but a mild course 
      of hypoglycemic syndrome was noted. Numerous examinations that were performed to 
      establish an accurate diagnosis are described, signs that served as a reason for 
      expanding the complex of studies are indicated, possible pathogenetic mechanisms 
      of the mild course of hypoglycemic syndrome and hyperglycemic conditions are 
      discussed. CONCLUSION: This case report is original and highlights that we must 
      always remain intolerant of the inexplicable. Conducting an extended gene study 
      can help perform a correct diagnosis in complex cases.
FAU - Yukina, Marina
AU  - Yukina M
AUID- ORCID: 0000-0002-8771-8300
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Solodovnikova, Ekaterina
AU  - Solodovnikova E
AUID- ORCID: 0000-0002-2406-9016
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Popov, Sergey
AU  - Popov S
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Zakharova, Victorya
AU  - Zakharova V
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Utkina, Marina
AU  - Utkina M
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Petrov, Vasiliy
AU  - Petrov V
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Troshina, Ekaterina
AU  - Troshina E
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
FAU - Mokrysheva, Natalia
AU  - Mokrysheva N
AD  - State Scientific Center of the Russian Federation Federal State Budgetary 
      Institution, National Medical Research Center of Endocrinology of the Ministry of 
      Health of the Russian Federation, 117036 Moscow, Russia.
LA  - eng
PT  - Case Reports
PT  - Research Support, Non-U.S. Gov't
DEP - 20231017
PL  - Switzerland
TA  - Genes (Basel)
JT  - Genes
JID - 101551097
RN  - 0 (Hypoglycemic Agents)
RN  - IY9XDZ35W2 (Glucose)
RN  - 0 (ABCC8 protein, human)
RN  - 0 (Sulfonylurea Receptors)
SB  - IM
MH  - Adult
MH  - Humans
MH  - *Multiple Endocrine Neoplasia Type 1/genetics
MH  - *Insulinoma/genetics/pathology
MH  - Germ-Line Mutation
MH  - *Congenital Hyperinsulinism
MH  - Hypoglycemic Agents
MH  - Glucose
MH  - Sulfonylurea Receptors/genetics
PMC - PMC10606354
OTO - NOTNLM
OT  - ABCC8
OT  - MEN1
OT  - congenital hyperinsulinism
OT  - non-diabetic hypoglycemia
OT  - syndrome of multiple endocrine neoplasia type 1
COIS- The authors declare no conflict of interest.
EDAT- 2023/10/28 11:43
MHDA- 2023/10/30 06:47
PMCR- 2023/10/17
CRDT- 2023/10/28 01:20
PHST- 2023/08/15 00:00 [received]
PHST- 2023/10/13 00:00 [revised]
PHST- 2023/10/15 00:00 [accepted]
PHST- 2023/10/30 06:47 [medline]
PHST- 2023/10/28 11:43 [pubmed]
PHST- 2023/10/28 01:20 [entrez]
PHST- 2023/10/17 00:00 [pmc-release]
AID - genes14101952 [pii]
AID - genes-14-01952 [pii]
AID - 10.3390/genes14101952 [doi]
PST - epublish
SO  - Genes (Basel). 2023 Oct 17;14(10):1952. doi: 10.3390/genes14101952.