Work

Two Cases of Severe Insulin Resistance in Pregnancy: A New Diagnosis of INSR Variant and a Patient with SHORT Syndrome

Year: 2025

Type: article

Abstract: Insulin sensitivity decreases during pregnancy; hence, higher insulin requirements occur in cases of preexisting insulin resistance. In pregnant patients with extremely high insulin requirements, a monogenic etiology may be present. We present 2 cases of severe insulin resistance in pregnancy. Heterozygous insulinreceptor (INSR) pathogenic gene variants were detected in a 31-year-old woman with a high body mass index and type 2 diabetes mellitus who needed up to 2200 units/day of insulin. A 25-year-old woman with lipodystrophy and insulin resistance, associated with SHORT syndrome (short stature, hyperextensible elbows, ocular depression, teeth eruption) due to a heterozygous PIK3R1 pathogenic variant developed insulin requirements up to 766 units/day after exposure to exogenous steroids. Few case reports describe patients with INSR variants in pregnancy but none among women with coexisting obesity. No previous cases of SHORT syndrome in pregnancy have been described. These cases serve as a reminder to consider differential diagnoses for severe insulin resistance presenting in pregnancy and highlight a need for future research regarding treatment options.

Source: JCEM Case Reports

DOI: 10.1210/jcemcr/luaf243

Authors: Abigail Katherine L’Amie, Rosemary M Hall, Julie Bate, Stephanie Cox, Rinki Murphy

Institutions: Health New Zealand, University of Auckland, Greenlane Clinical Centre

Language: English

Topic: Growth Hormone and Insulin-like Growth Factors

Subfield: Endocrinology, Diabetes and Metabolism

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $930