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Maria Stella Graziani

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Responsible Editor
Giuseppe Agosta

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Arianna Lucini Paioni
Biomedia srl
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email: biochimica.clinica@sibioc.it



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BC: Articoli scritti da A. Napoli

Gravidanza gemellare dizigotica in una donna affetta da diabete MODY3
Twin dizygotic pregnancy in a MODY3 patient
<p>Maturity Onset Diabetes of the young (MODY) is an autosomal dominant disease that includes clinically heterogeneous forms of not autoimmune diabetes that are caused by mutations in different genes. To date at least thirteen subtypes of MODY have been described. Hepatocyte Nuclear Factor-1&alpha; <em>(HNF-1&alpha;)</em> gene mutations (MODY3) lead to a severe form of diabetes during adolescence, with glycosuria and progressive reduction of insulin secretion. The management of pregnancies in women with familial diseases could be difficult. We reported a case of a 36-year-old woman at the 5th week of a twin, bicorial, biamniotic pregnancy, diagnosed with diabetes at 18 years of age, with negative autoimmunity and diabetes family history. Genetic tests on woman and on her family showed father, sister, first daughter and one of the twins, carriers of c.812G&gt;A <em>HNF-1&alpha;</em> mutation. This case of a twin pregnancy, with only one fetus inheriting the disease, allowed us to evaluate the genotype influence in a shared metabolic environment.</p>
Biochimica Clinica ; 41(4) e25-e28
Casi clinici - Case report