The Genetic and Molecular Mechanisms of Congenital Hyperinsulinism.


:Congenital hyperinsulinism (CHI) is a heterogenous and complex disorder in which the unregulated insulin secretion from pancreatic beta-cells leads to hyperinsulinaemic hypoglycaemia. The severity of hypoglycaemia varies depending on the underlying molecular mechanism and genetic defects. The genetic and molecular causes of CHI include defects in pivotal pathways regulating the secretion of insulin from the beta-cell. Broadly these genetic defects leading to unregulated insulin secretion can be grouped into four main categories. The first group consists of defects in the pancreatic KATP channel genes (ABCC8 and KCNJ11). The second and third categories of conditions are enzymatic defects (such as GDH, GCK, HADH) and defects in transcription factors (for example HNF1α, HNF4α) leading to changes in nutrient flux into metabolic pathways which converge on insulin secretion. Lastly, a large number of genetic syndromes are now linked to hyperinsulinaemic hypoglycaemia. As the molecular and genetic basis of CHI has expanded over the last few years, this review aims to provide an up-to-date knowledge on the genetic causes of CHI.


Galcheva S,Demirbilek H,Al-Khawaga S,Hussain K




Has Abstract


2019-02-26 00:00:00








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    abstract::Objectives: To evaluate the impact of metformin (MTF) use on TSH levels, thyroid volume and volume of benign thyroid nodules (TNs). Additionally, to study if iodine status influences the outcomes. Methods: A total of 23 euthyroid patients (42 TNs) with benign thyroid nodules, diagnosed by fine needle aspiration biopsy...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Dos Santos PB,Gertrudes LN,Conceição FL,de Andrade BM,de Carvalho DP,Vaisman M,Teixeira PFDS

    更新日期:2019-07-17 00:00:00

  • Central and direct regulation of testicular activity by gonadotropin-inhibitory hormone and its receptor.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Ubuka T,Son YL,Tobari Y,Narihiro M,Bentley GE,Kriegsfeld LJ,Tsutsui K

    更新日期:2014-01-27 00:00:00

  • Corrigendum: The Gambian Bone and Muscle Ageing Study: Baseline Data From a Prospective Observational African Sub-Saharan Study.

    abstract::[This corrects the article on p. 219 in vol. 8, PMID: 28912754.]. ...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,已发布勘误


    authors: Zengin A,Fulford AJ,Sawo Y,Jarjou LM,Schoenmakers I,Goldberg G,Prentice A,Ward KA

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  • Osteogenic and Chondrogenic Potential of the Supramolecular Aggregate T-LysYal®.

    abstract::Hard tissue regeneration represents a challenge for the Regenerative Medicine and Mesenchymal stem cells (MSCs) could be a successful therapeutic strategy. T-LysYal® (T-Lys), a new derivative of Hyaluronic Acid (HA) possessing a superior stability, has already been proved efficient in repairing corneal epithelial cell...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Di Benedetto A,Posa F,Marazzi M,Kalemaj Z,Grassi R,Lo Muzio L,Comite MD,Cavalcanti-Adam EA,Grassi FR,Mori G

    更新日期:2020-05-05 00:00:00

  • Insulin Resistance in Children.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Tagi VM,Giannini C,Chiarelli F

    更新日期:2019-06-04 00:00:00

  • Fibroblast Growth Factor 21-Null Mice Do Not Exhibit an Impaired Response to Fasting.

    abstract::Fibroblast growth factor 21 (FGF21) is a pleotropic metabolic regulator, expression of which is elevated during fasting. To this end, the precise role played by FGF21 in the biology of fasting has been the subject of several recent studies, which have demonstrated contributions to the regulation of both lipid and carb...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Antonellis PJ,Hayes MP,Adams AC

    更新日期:2016-06-30 00:00:00

  • High Adiposity Is Associated With Higher Nocturnal and Diurnal Glycaemia, but Not With Glycemic Variability in Older Individuals Without Diabetes.

    abstract:Background:It is well known that adiposity is a risk factor for insulin resistance and type 2 diabetes mellitus. In the present study, we aimed to investigate the associations of measures of adiposity with indices of glycemia and of glycemic variability over a 72-h period in non-diabetic older adults. Methods:This cro...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Noordam R,Huurman NC,Wijsman CA,Akintola AA,Jansen SWM,Stassen S,Beekman M,van de Rest O,Slagboom PE,Mooijaart SP,van Heemst D

    更新日期:2018-05-14 00:00:00

  • Evolution of hepatic steatosis to fibrosis and adenoma formation in liver-specific growth hormone receptor knockout mice.

    abstract:BACKGROUND:Non-alcoholic fatty liver disease (NAFLD) is one of the most common forms of chronic liver diseases closely associated with obesity and insulin resistance; deficient growth hormone (GH) action in liver has been implicated as a mechanism. Here, we investigated the evolution of NAFLD in aged mice with liver-sp...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Fan Y,Fang X,Tajima A,Geng X,Ranganathan S,Dong H,Trucco M,Sperling MA

    更新日期:2014-12-18 00:00:00

  • Vitiligo and Autoimmune Thyroid Disorders.

    abstract::Vitiligo represents the most common cause of acquired skin, hair, and oral depigmentation, affecting 0.5-1% of the population worldwide. It is clinically characterized by the appearance of disfiguring circumscribed skin macules following melanocyte destruction by autoreactive cytotoxic T lymphocytes. Patients affected...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Baldini E,Odorisio T,Sorrenti S,Catania A,Tartaglia F,Carbotta G,Pironi D,Rendina R,D'Armiento E,Persechino S,Ulisse S

    更新日期:2017-10-27 00:00:00

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Tran A,He W,Jiang N,Chen JTC,Belsham DD

    更新日期:2020-06-12 00:00:00

  • The Osteocyte as the New Discovery of Therapeutic Options in Rare Bone Diseases.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Pathak JL,Bravenboer N,Klein-Nulend J

    更新日期:2020-07-08 00:00:00

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Schwartz AV,Ewing SK,Porzig AM,McCulloch CE,Resnick HE,Hillier TA,Ensrud KE,Black DM,Nevitt MC,Cummings SR,Sellmeyer DE

    更新日期:2013-05-30 00:00:00

  • Finite Element Analysis-Based Vertebral Bone Strength Prediction Using MDCT Data: How Low Can We Go?

    abstract::Objective: To study the impact of dose reduction in MDCT images through tube current reduction or sparse sampling on the vertebral bone strength prediction using finite element (FE) analysis for fracture risk assessment. Methods: Routine MDCT data covering lumbar vertebrae of 12 subjects (six male; six female; 74.70 ±...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Rayudu NM,Subburaj K,Mei K,Dieckmeyer M,Kirschke JS,Noël PB,Baum T

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Ubuka T,Son YL,Tobari Y,Tsutsui K

    更新日期:2012-11-28 00:00:00

  • Identification of Putative Natriuretic Hormones Isolated from Human Urine.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Kramer HJ

    更新日期:2015-05-20 00:00:00

  • Cytokines, Adipokines, and Bone Markers at Rest and in Response to Plyometric Exercise in Obese vs Normal Weight Adolescent Females.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Kurgan N,McKee K,Calleja M,Josse AR,Klentrou P

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  • Multiple Salivary Cortisol Measurements Are a Useful Tool to Optimize Metyrapone Treatment in Patients with Cushing's Syndromes Treatment: Case Presentations.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Yoshida K,Fukuoka H,Odake Y,Nakajima S,Tachibana M,Ito J,Hosokawa Y,Yamada T,Miura H,Suematsu N,Matsumoto R,Bando H,Suda K,Nishizawa H,Iguchi G,Ogawa W,Takahashi Y

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  • Sensing Glucose in the Central Melanocortin Circuits of Rainbow Trout: A Morphological Study.

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    journal_title:Frontiers in endocrinology

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    authors: Otero-Rodiño C,Rocha A,Sánchez E,Álvarez-Otero R,Soengas JL,Cerdá-Reverter JM

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  • Plasma Prolactin and Progesterone Levels and the Risk of Gestational Diabetes: A Prospective and Longitudinal Study in a Multiracial Cohort.

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    authors: Li M,Song Y,Rawal S,Hinkle SN,Zhu Y,Tekola-Ayele F,Ferrara A,Tsai MY,Zhang C

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  • Production of hydrogen sulfide from d-cysteine and its therapeutic potential.

    abstract::Accumulating evidence shows that H2S has physiological functions in various tissues and organs. It includes regulation of neuronal activity, vascular tension, a release of insulin, and protection of the heart, kidney, and brain from ischemic insult. H2S is produced by enzymes from l-cysteine; cystathionine β-synthase,...

    journal_title:Frontiers in endocrinology

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    authors: Shibuya N,Kimura H

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Molina L,Bustamante F,Ortloff A,Ramos I,Ehrenfeld P,Figueroa CD

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  • Integrated Analysis of Multiple Microarray Studies to Identify Novel Gene Signatures in Non-alcoholic Fatty Liver Disease.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Jia X,Zhai T

    更新日期:2019-08-30 00:00:00

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Würth R,Thellung S,Corsaro A,Barbieri F,Florio T

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  • From Sea to Shining Sea and the Great Plains to Patagonia: A Review on Current Knowledge of Diabetes Mellitus in Hispanics/Latinos in the US and Latin America.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Avilés-Santa ML,Colón-Ramos U,Lindberg NM,Mattei J,Pasquel FJ,Pérez CM

    更新日期:2017-11-10 00:00:00

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Jia X,Wang B,Yao Q,Li Q,Zhang J

    更新日期:2019-01-16 00:00:00

  • The Impact of Bariatric Surgery on Type 2 Diabetes Mellitus and the Management of Hypoglycemic Events.

    abstract::Recent studies discussed the benefit of bariatric surgery on obese patients diagnosed with type 2 diabetes mellitus (T2DM). Several factors play an essential role in predicting the impact of bariatric surgery on T2DM, such as ABCD score (age, BMI, C-peptide, and duration of the disease), HbA1c, and fasting blood gluco...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章,评审


    authors: Kassem MA,Durda MA,Stoicea N,Cavus O,Sahin L,Rogers B

    更新日期:2017-03-01 00:00:00

  • Reduced Expression of PLCXD3 Associates With Disruption of Glucose Sensing and Insulin Signaling in Pancreatic β-Cells.

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    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Aljaibeji H,Mukhopadhyay D,Mohammed AK,Dhaiban S,Hachim MY,Elemam NM,Sulaiman N,Salehi A,Taneera J

    更新日期:2019-11-06 00:00:00

  • Low Prevalence of Isolated Growth Hormone Deficiency in Patients After Brain Injury: Results From a Phase II Pilot Study.

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    journal_title:Frontiers in endocrinology



    authors: Leonhardt M,Kopczak A,Schäpers B,Limbrock J,Sämann PG,Czisch M,von Steinbuechel N,Jordan M,Schneider HJ,Schneider M,Sievers C,Stalla GK

    更新日期:2018-12-17 00:00:00

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    journal_title:Frontiers in endocrinology



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    更新日期:2020-07-23 00:00:00

  • TSH Receptor Homodimerization in Regulation of cAMP Production in Human Thyrocytes in vitro.

    abstract::Thyrotropin hormone (TSH) was reported to exhibit biphasic regulation of cAMP production in human thyroid slices; specifically, upregulation at low TSH doses transitioning to inhibition at high doses. We observed this phenomenon in HEK293 cells overexpressing TSH receptors (TSHRs) but in only 25% of human thyrocytes (...

    journal_title:Frontiers in endocrinology

    pub_type: 杂志文章


    authors: Boutin A,Krieger CC,Marcus-Samuels B,Klubo-Gwiezdzinska J,Neumann S,Gershengorn MC

    更新日期:2020-04-30 00:00:00