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P-21 Maturity onset diabetes of the young 7: Case report

Tatjana Bajraktarova Prosheva, Argent Mucha, Ivana Mladenovska Stojkoska, B. Todorova, Aleksandra Stevchevska, Iskra Bitovska, Milena Srbinoska Bogatinoska, Tatjana Milenkovic

JCEM Case Reports, 2024

Abstract

Abstract Introduction Maturity Onset Diabetes of the Young (MODY) is a rare form of diabetes which is different from both type 1 and type 2 diabetes, and runs strongly in families. MODY is autosomal dominant inherited type of diabetes, caused by a mutation (or change) in a single gene. If a parent has this gene mutation, any child they have, has a 50% chance of inheriting it from them. Recently, 14 gene mutations have been found to be associated with MODY. The Krüppel-like factor 11 (KLF11) gene mutation is the pathogenic gene of MODY7. Clinical Case A 17-year-old female patient with a previous history of obesity was admitted at outpatient office for regular control of weight and body mass index (BMI). Two years ago the patient was diagnosed with obesity, hyperinsulinemia and insulin resistance, with body weight (BW) 90 kg, body height (BH) 167 cm and BMI 32,3. The patient is on therapy with Metformin 2×500 mg. Results of the moment of examination: BW 100 kg, BH 168 cm, BMI 35,4; HbA1c 5,96%; Fasting plasma glucose (FPG) 6.8 mmol/l; Insulinemia 13,17; C-peptide 1,00; oral glucose tolerant test (OGTT): 0’ 6,5 mmol/l 120’ 11,0 mmol/l; insulinemia during OGTT (μU/mL): 0’ 14,05; 120’ 98,75; C-peptide during OGTT (ng/mL): 0’ 1,00; 120’ 6.95; Fundus examination and Doppler ultrasonography of both lower limbs showed no abnormalities. Family history was positive for Diabetes mellitus type 2 (mother, grandmother). The Immunological tests for Diabetes mellitus type 1 were negative for…

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