Very Severe Resistance to Thyroid Hormone β in One of Three Affected Members of a Family with a Novel Mutation in the THRB Gene

Glycemic Control

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation

Pediatr Diabetes.

Innaurato S, Brierley GV, Grasso V, Massimi A, Gaudino R, Sileno S, Bernardini S, Semple R, Barbetti F

doi: 10.1111/pedi.12632.

Obesity and Bariatric Surgery

A novel MYT1L mutation in a patient with severe early-onset obesity and intellectual disability

Am J Med Genet A.

Loid P, Mäkitie R, Costantini A, Viljakainen H, Pekkinen M, Mäkitie O

doi: 10.1002/ajmg.a.40370.

Type 1 Diabetes

Case Report: Metreleptin Treatment in a Patient With a Novel Mutation for Familial Partial Lipodystrophy Type 3, Presenting With Uncontrolled Diabetes and Insulin Resistance

Front Endocrinol (Lausanne)

Lambadiari V, Kountouri A, Maratou E, Liatis S, Dimitriadis GD, Karpe F

doi: 10.3389/fendo.2021.684182

Diabetes - GeneralGlycemic ControlObesity and Bariatric Surgery

Diagnostic and management challenges from childhood, puberty through to transition in severe insulin resistance due to insulin receptor mutations.

Pediatr Diabetes.

Wei C, Burren CP

doi: 10.1111/pedi.12486.

Diabetes - GeneralGlycemic Control

Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation

J Pediatr Endocrinol Metab.

Yildiz M, Akcay T, Aydin B, Akgun A, Dogan BB, De Franco E, Ellard S, Onal H

doi: 10.1515/jpem-2017-0325.

Thyroid

Extreme Short Stature and Severe Neurological Impairment in a 17-Year-Old Male With Untreated Combined Pituitary Hormone Deficiency Due to POU1F1 Mutation

Front Endocrinol (Lausanne).

Majdoub H, Amselem S, Legendre M, Rath S, Bercovich D, Tenenbaum-Rakover Y

doi: 10.3389/fendo.2019.00381.

Thyroid

A novel Double RET E768D/L790F mutation associated with a MEN2B-like phenotype

Thyroid.

Mathew A, Latteyer S, Frank-Raue K, Moeller LC, Zwanziger D, Mengel M, Führer D, Tiedje V

doi: 10.1089/thy.2019.0472.

Diabetes - General

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

Int Med Case Rep J.

Emelyanov AO, Sechko E, Koksharova E, Sklyanik I, Kuraeva T, Mayorov A, Peterkova V, Dedov I

doi: 10.2147/IMCRJ.S125103.

Diabetes - General

Mecasermin in Insulin Receptor-Related Severe Insulin Resistance Syndromes: Case Report and Review of the Literature

Int J Mol Sci.

Plamper M, Gohlke B, Schreiner F, Woelfle J

doi: 10.3390/ijms19051268.

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