Endocrine Abstracts

Introduction

Mitochondrial diseases are a clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain.it is genetically heterogeneous diseases characterized by multisystem involvement. Thus, its clinical description is incomplete. The aim of this case report is to highlight the association between mitochondrial diabetes and severe hypertriglyceridemia. In this study, we describe the case of a 22 year old Tunisian girl, with a strong familial history of diabetes, hypertension and kidney diseases. The patient was born to a non-consanguineous marriage, attaining developmental milestones appropriately. Her past medical history was remarkable for hearing impairment, congenital Pigmentary retinal dystrophy, congenital structural abnormalities of the urogenital system and Diabetes with severe insulin deficiency but without typical features of Type 1diabetes (such as autoimmunity, prompt insulin requirement, ketoacidosis).Mitochondrial disease was then suspected and confirmed, since the age of 11, when genetic analysis identified A novel MT-CO1 m.6498C > A variation associated with the m.7444G > A mutation in the mitochondrial COI/tRNASer(UCN) genes The follow up findings revealed a poorly controlled diabetes (HBA1c 10.8%) despite increasing insulin requirement up to 2 uI/Kg /day and severe hypertriglyceridemia up to (13 g/l).The patient weight was 52 kg and her body mass index was 24.4 kg/m². Physical examination and abdominal imaging didn’t reveal any pancreatitis features, except the presence of Hepatosteatosis. Furthermore, cardiovascular examination was normal and there was no evidence of eruptive xanthoma. Serum sample was milky and turbid. Lipoprotein-electrophoresis of serum, under fasting conditions, showed high levels of plasma VLDL (33%) and the presence of a small amount of chylomicrons (8.1%) accompanied by decreased level of HDL. Metabolic syndrome was then concluded by association of diabetes, hypertriglyceridemia, hypoHDL and hepatosteatosis. Severe hypertriglyceridemia was successfully resolved by diet control fibrates insulin and hydration therapy. In the other side, the patient was suffering of spaniomenorrhea, hyperandrogenism with hirsutism (Ferriman Gallwey score of 8), and gradual weight gain. Biochemically, hyperoestrogenaemia was observed in association with raised serum luteinizing hormone (LH), follicle-stimulating hormone (FSH) and antimullerian hormone (AMH) concentrations in 2016. Moreover, pelvic ultrasound revealed polycystic ovarian disease.

Conclusion

To our knowledge, this is the first case report describing a severe hypertriglyceridemia and polycystic ovary syndrome in maternally inherited diabetes and deafness.