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2023

ANUÁRIO DO HOSPITAL
DONA ESTEFÂNIA

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HYPERGLYCAEMIA AND METABOLIC SYNDROME: NOT ALWAYS SYNONYMOUS OF T2D

J Galhardo, C Limbert, L Lopes

Unidade de Endocrinologia Pediátrica; Área de Pediatria Médica; Hospital de Dona Estefânia, Centro Hospitalar de Lisboa Central, EPE; Lisboa, Portugal

- 42nd Annual Meeting of ISPAD, 26-29/10/ 2016, Valencia, Espanha (Poster)
- Pediatric Diabetes 2016, 17 (Suppl 24): 1-176 (Resumo)

Background: Maturity Onset Diabetes of the Young encloses a group of monogenic disorders caused by autosomal dominant mutations in genes linked to the function of pancreatic ß-cells. Usually it presents as a non-ketotic hyperglycaemia, in patients under 25yr that miss both T1D and T2D features.
Case Report: We report a 15yr Caucasian girl, admitted for non-ketotic hyperglycaemia (227mg/dL) detected after one month of polyuria and polydipsia. There was no history of chronic medication or pancreatic insult. Apart from central obesity (BMI 30Kg/m2; Wc 100cm), mild hirsutism and severe facial acne, her examination was unremarkable.  She was born LGA and is obese since toddlerhood. Her menarche was at 9yr, with irregular cycles ever since. Her sister, mother, and maternal grandfather had diabetes classified as T2D from their 20’s, when all were lean. Fasting bloods revealed HbA1c 7.4%, C-peptide 2.5ng/dl, glucose 154mg/dL, triglycerides 164mg/dL, HDL 32mg/dL, ALT 67U/L, 25(OH)-D 20.2ng/mL; autoimmune markers, hyperandrogenism and thyroid dysfunction were absent. Pelvic and abdominal US were normal. MODY genetic screening panel was also performed. She was started on basal-bolus insulin, normocaloric diet, and colecalciferol. Her compliance was erratic, with progressive weight gain and HbA1c increase to 10.6%. 9 months into diagnosis, genetic testing revealed HNF1A c.89 T>C heterozygous variant, to our knowledge not yet described in the literature. Gliclazide (30mg/day) was then started and doubled on wk2; metformin (850mg/day) was introduced on wk3 and doubled on wk4; in parallel, insulin was progressively withdrawn (weekly half-cut) and stopped on wk5. During the first month of follow-up glycaemia has been between 90-140mg/dL. 
Discussion: Worldwide there is an increasing prevalence of youth obesity and T2D. However, even in the presence of metabolic syndrome and the lack of autoantibodies, an important history of diabetes in direct relatives, especially if they were lean and young at diagnosis, should put us on the track of MODY, as this can be important for both treatment and prognosis.

Palavras-chave: diabetes, MODY 3, metabolic syndrome