Publications by authors named "Mairead Crowley"
Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys).
Endocrinol Diabetes Metab Case Rep
January 2025
Summary: Heterozygous insulin receptor (INSR) mutations cause type A insulin resistance (IR), associated with a phenotype of IR; hyperandrogenism, oligomenorrhoea and acanthosis nigricans in the absence of obesity or lipoatrophy. The phenotype is variable, ranging from neonatal hyperinsulinaemic hypoglycaemia to fasting or post-prandial hypoglycaemia in adults to diabetes. We report a 29-year-old woman presenting at 13 weeks gestation in her second pregnancy.
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- Heterozygous mutations in the insulin receptor gene (INSR) lead to type A insulin resistance, causing issues like insulin resistance, high blood sugar levels, and reproductive problems in women.
- The case study focuses on a 20-year-old woman with a specific insulin receptor mutation (p.Met1180Lys), who experiences symptoms like excessive hair growth, irregular menstrual cycles, and diabetes alongside other autoimmune diseases.
- During her 11 pregnancies, she managed her diabetes with varying insulin doses, observing that her children with the mutation tended to have lower birth weights compared to those without it.
Background: Non-islet cell tumour hypoglycemia (NICTH) is rarely encountered in clinical practice. Insulin-like growth factor 2 (IGF2) is the most common cause of NICTH observed in the setting of mesenchymal and epithelial neoplasia. This is a paraneoplastic syndrome caused by IGF2 activation of the insulin receptor.
View Article and Find Full Text PDFHypercalcaemia occurs in many granulomatous diseases. Among them, sarcoidosis and tuberculosis are the most common causes. Other causes include berylliosis, coccidioidomycosis, histoplasmosis, Crohn's disease, silicone-induced granulomas, cat-scratch disease, Wegener's granulomatosis and pneumonia.
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