scholarly journals Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation

2021 ◽  
Vol 0 (0) ◽  
pp. 0-0
Author(s):  
Aleksandra Rojek ◽  
Beata Wikiera ◽  
Anna Noczynska ◽  
Marek Niedziela
Keyword(s):  
Insulin Resistance ◽  
Gene Mutation ◽  
Insr Gene

INSR gene mutation. Insulin resistance with low prevalence in pediatrics. A case review

2019 ◽  
Vol 66 (9) ◽  
pp. 588-589
Author(s):  
Ana Belén Ariza Jiménez ◽  
Juan Pedro López Siguero ◽  
María José Martínez Aedo Ollero ◽  
Almudena Del Pino de la Fuente ◽  
Isabel ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Gene Mutation ◽  
Case Review ◽  
Insr Gene ◽  
Low Prevalence

scholarly journals SEVERE INSULIN RESISTANCE DUE TO C.576C>G (P.I119M) MUTATION IN THE INSR GENE: CASE REPORT

2017 ◽  
Vol 3 (1) ◽  
pp. e17-e21
Author(s):  
Raya A. Almazrouei ◽  
Juma Alkaabi ◽  
Fatima M. Alkaabi ◽  
Hanan Alshamsi
Keyword(s):  
Insulin Resistance ◽  
Case Report ◽  
Severe Insulin Resistance ◽  
Insr Gene

Insulin Resistance in Patients with the Mitochondrial tRNALeu(UUR) Gene Mutation at Position 3243

2002 ◽  
Vol 110 (06) ◽  
pp. 291-297 ◽  
Author(s):  
Regine Becker ◽  
Heiner Laube ◽  
Thomas Linn ◽  
Maxwell Damian
Keyword(s):  
Insulin Resistance ◽  
Gene Mutation

scholarly journals A glucokinase gene mutation in a young boy with diabetes mellitus, hyperinsulinemia, and insulin resistance

2017 ◽  
Vol Volume 10 ◽  
pp. 77-80
Author(s):  
Andrey Emelyanov ◽  
Elena Sechko ◽  
Ekaterina Koksharova ◽  
Igor Sklyanik ◽  
Tamara Kuraeva ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Insulin Resistance ◽  
Gene Mutation ◽  
Glucokinase Gene

Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the β-subunit of the insulin receptor (INSR ) gene

2018 ◽  
Vol 11 (1) ◽  
pp. 46-54 ◽  
Author(s):  
Kei Takasawa ◽  
Atsumi Tsuji-Hosokawa ◽  
Shigeru Takishima ◽  
Yasunori Wada ◽  
Keisuke Nagasaki ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Clinical Characteristics ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Β Subunit ◽  
Insr Gene ◽  
Type A Insulin Resistance

scholarly journals Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance

2022 ◽  
Vol 2022 ◽  
Author(s):  
Elaine E Sanderson ◽  
Mark Shah ◽  
Amanda J Hooper ◽  
Damon A Bell ◽  
Catherine S Choong
Keyword(s):  
Insulin Resistance ◽  
Insulin Receptor ◽  
Children And Adolescents ◽  
Insulin Resistance Syndrome ◽  
Type A ◽  
Genetic Evaluation ◽  
Monogenic Diabetes ◽  
Gene Variants ◽  
Insr Gene ◽  
Type A Insulin Resistance

Summary We report a case of an 11-year-old girl presenting with a new diagnosis of diabetes associated with a heterozygous missense mutation in the insulin receptor (INSR) gene. This case highlights that INSR gene variants can be a cause for monogenic diabetes in children and adolescents and the need for genetic evaluation in atypical presentations of diabetes. We also describe the possible role of metformin in treating individuals with type A insulin resistance syndrome due to INSR gene variants. Learning points Insulin receptor (INSR) gene variants can be a cause of monogenic diabetes in children and adolescents. Genetic evaluation should be considered in children and adolescents with type 2 diabetes (T2D), particularly where there is an atypical presentation and/or positive family history. Metformin may have a role in the treatment of type A insulin resistance syndrome due to heterozygous mutation of the INSR gene.

Mitochondrial Gene Mutation as a Cause of Insulin Resistance

Diabetes Care ◽  
1995 ◽  
Vol 18 (2) ◽  
pp. 275-275 ◽  
Author(s):  
M. Odawara ◽  
Y. Asakura ◽  
K. Tada ◽  
Y. Tsurushima ◽  
K. Yamashita
Keyword(s):  
Insulin Resistance ◽  
Gene Mutation ◽  
Mitochondrial Gene ◽  
Mitochondrial Gene Mutation

Description of the first genetically confirming case with Donahue’s syndrome in Russia

2016 ◽  
Vol 62 (2) ◽  
pp. 42-45
Author(s):  
Yulia V. Tikhonovich ◽  
Oleg A. Malievsky ◽  
Anatoly Tyul'pakov
Keyword(s):  
Insulin Resistance ◽  
Age Of Onset ◽  
Insulin Resistance Syndrome ◽  
Neonatal Diabetes ◽  
Type A ◽  
Β Subunit ◽  
Α Subunit ◽  
Mild Phenotype ◽  
Insr Gene ◽  
Donohue Syndrome

Syndrome Donahue (leprechaunism) is a rare form of neonatal diabetes mellitus associated with INSR gene mutations. There are three types of insulin resistance syndrome: Donohue syndrome, Rabson—Mendenhall syndrome and insulin resistance type A. These syndromes are distinguished from one another by severity of symptoms, age of onset and age of death. Donohue and Rabson—Mendenhall syndromes are associated with biallelic mutations in the α-subunit or/and β-subunit of INSR gene and are characterized by more severe phenotype and poor prognosis. Patients with Donohue syndrome usually die within the first two years of life. Life expectancy of patients with Rabson—Mendenhall syndrome is 5—15 years. Most patients with insulin resistance type A have heterozygous mutations in the β-subunit and demonstrate mild phenotype. Here, we describe the first genetically confirmed case of syndrome Donahue in the Russian Federation.

scholarly journals MON-923 MENIN Gene Mutation: Unity Amidst Diversity

2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Nadeem M Rais ◽  
Anshul Kumar ◽  
Swetha Jain ◽  
Vinod Scaria ◽  
Savinitha Prakash ◽  
...  
Keyword(s):  
Insulin Resistance ◽  
Gene Mutation ◽  
Wide Spectrum ◽  
Hormone Replacement ◽  
Clinical Manifestations ◽  
Lower Limbs ◽  
Whole Body ◽  
Common Mutation ◽  
Total Parathyroidectomy ◽  
Exon 2

Abstract Introduction The MEN 1 syndrome is an enigmatic disorder, manifesting a wide spectrum of disorders, in members of a family, harbouring the same gene mutation. We present one such family, with a MENIN gene mutation with marked diversity in the clinical presentation Clinical cases 1992: RB (Age: 13) presented with accelerated puberty, galactorrhoea and a lactotroph adenoma. Treated with Bromocriptine, followed by hypophysectomy and radiotherapy. He was on hormone replacement for hypopituitarism. 1996: He gained 21 kg of weight and had recurrent episodes of convulsions with unconsciousness.He had hypoglycaemia (13mg/dl; N >70), with hyperinsulinemia (58uIU/ml; N<25). MRI abdomen showed a mass (3.4 x 3.0 cm) over the tail of the pancreas for which a distal pancreatectomy was done (HPE: Neuroendocrine tumour). 2013: He had pain in the lower limbs with hypercalcemia (11.4mg%; N: 8.5-10.5) and hyperparathyroidism (329 pg/ml; N: 10-61) (MIBG Scan: parathyroid adenomas treated by bilateral inferior parathyroidectomy). 2016: He had hypoglycaemia with hyperinsulinemia with multifocal pancreatic NETs. These were enucleated at surgery. 2017: He developed Zollinger Ellison syndrome with raised basal gastrin levels (Gastrin: >200ng/ml; N<180) and multiple duodenal ulcers (Treatment: Pantoprazole). He simultaneously had recurrent hyperparathyroidism and underwent a total parathyroidectomy with allograft. The allograft initially showed evidence of hyperparathyroidism followed by hypoparathyroidism. His father VB (Age: 56) was seen by us in 1996 for skin lesions and a malignant thymic carcinoid, to which he succumbed to, shortly after the surgery. His aunt, SB (Age: 18), has a lactotroph adenoma with severe insulin resistance characterised by obesity, acanthosis nigricans and hyperandrogenism. 2009: His paternal uncle PB (Age: 54) had a pituitary macroadenoma. He underwent a hypophysectomy and was lost to follow up. 2018: PB had massive haemoptysis. A bronchoscopy showed nodules in the right lung which on biopsy revealed a NET. The whole body scan showed a hilar and mediastinal mass along with metastatic disease to the adrenals, liver, spine, skull and rectum. The histopathology examination revealed a malignant carcinoid Clinical lesson Whole exome sequencing of the two of the affected members showed mutations of the MENIN gene at exon 2 c.G2492T:p.G831V; g. chr10. This common mutation in the family was associated with a wide spectrum of diverse clinical manifestations which include the classic disease, malignant carcinoids of the lung and acromegaloid variant of Type A insulin resistance with hyperandrogenism. These observations suggest the unity amidst diversity in the enigmatic syndrome that encompasses MEN1.

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