Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance - Takeaways - MDSpire

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance

  • By

  • Ramon Marcelino do Nascimento

  • Andrey dos Santos

  • Dioze Guadagnini

  • Lucas Santos de Santana

  • Augusto Cezar Junior Santomauro

  • Caroline Gouveia Buff Passone

  • Milena Gurgel Teles Bezerra

  • Larissa Garcia Gomes

  • Maria Lucia Corrêa-Giannella

  • Marcia Nery

  • Mario José Abdalla Saad

  • Delmar Muniz Junior Lourenço

  • Maria Adelaide Albergaria Pereira

  • May 7, 2026

  • 0 min

Share

  • 1

    Familial hyperinsulinemic hypoglycemia type 5 (HHF5) and type A insulin resistance syndrome (TAIRS) are caused by heterozygous pathogenic variants in the insulin receptor gene.

  • 2

    Eighteen carriers from five unrelated families exhibited hyperinsulinemic hypoglycemia, with 78% experiencing predominantly postprandial hypoglycemia.

  • 3

    All carriers demonstrated insulin resistance, with 60% of women also having polycystic ovary syndrome (PCOS), highlighting significant intrafamilial variability.

  • 4

    A distinct metabolic profile was identified, featuring normal BMI, elevated insulin levels, and paradoxical postprandial hypoglycemia associated with ketonemia.

  • 5

    Recognition of the PGV-INSR metabolic phenotype may enhance targeted testing, genetic counseling, and clinical management for affected individuals.

Original Source(s)

Hyperinsulinemic hypoglycemia due to pathogenic INSR variants: metabolic signature, phenotypic overlap, and semidominant inheritance

  • by Ramon Marcelino do Nascimento, Andrey dos Santos, Dioze Guadagnini, Lucas Santos de Santana, Augusto Cezar Junior Santomauro, Caroline Gouveia Buff Passone, Milena Gurgel Teles Bezerra, Larissa Garcia Gomes, Maria Lucia Corrêa-Giannella, Marcia Nery, Mario José Abdalla Saad, Delmar Muniz Junior Lourenço, Maria Adelaide Albergaria Pereira

  • May 7, 2026

Related Content

Follicular fluid proteomic alterations associated with oocyte developmental potential in polycystic ovary syndrome

Exploring the Connection Between Gut Microbiota and Hormonal Levels, Metabolic Processes, Inflammatory Responses, and Reproductive Hormones: A Comprehensive Review and Meta-Analysis

Top 10 States for Physician-Owned Hospitals

These 10 states make it more practical for physicians to participate in hospital ownership by aligning statutory structure, corporate practice of medicine rules, and population trends.