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-1α (HNF-1α) 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>A HNF-1α 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.

Gravidanza gemellare dizigotica in una donna affetta da diabete MODY3 / Bitterman, Olimpia; Iafusco, Dario; Torcia, Francesco; Pirozzi, Daniele; De Sanctis, Paola; Napoli, Angela; Tinto, Nadia. - In: BIOCHIMICA CLINICA. - ISSN 0393-0564. - 41:4(2017), pp. e25-e28. [10.19186/BC_2017.047]

Gravidanza gemellare dizigotica in una donna affetta da diabete MODY3

Daniele Pirozzi
Methodology
;
Nadia Tinto
Writing – Original Draft Preparation
2017

Abstract

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-1α (HNF-1α) 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>A HNF-1α 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.
2017
Gravidanza gemellare dizigotica in una donna affetta da diabete MODY3 / Bitterman, Olimpia; Iafusco, Dario; Torcia, Francesco; Pirozzi, Daniele; De Sanctis, Paola; Napoli, Angela; Tinto, Nadia. - In: BIOCHIMICA CLINICA. - ISSN 0393-0564. - 41:4(2017), pp. e25-e28. [10.19186/BC_2017.047]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/788321
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