Pre-gestational diabetes in a young woman with a pathogenic INSR missense mutation, p.(Met1180Lys)
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 hypoglycaemi...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Bioscientifica
2025-02-01
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| Series: | Endocrinology, Diabetes & Metabolism Case Reports |
| Subjects: | |
| Online Access: | https://edm.bioscientifica.com/view/journals/edm/2025/1/EDM-24-0087.xml |
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