Endocrine Abstracts

Introduction: Aniridia is a rare congenital condition which is characterized by a complete or partial absence of the iris and fovea and malformations of the lens and anterior chamber. It is usually related to mutations in PAX6, a member of a multigene family of transcription factors, which is important for the development of the nervous system, the eyes and also the endocrine pancreas and it is found to be associated with mild glucose intolerance. Complete loss of insulin secretion is rarely described and here we present such a case.

Presentation: A seventeen years old male, with congenital bilateral aniridia, and no other past medical history, referred to our department due to polydipsia, polyuria, fatigue and weight loss (10 kilograms the last five months) gradually worsening. On clinical examination his BMI was 27,73 kg/m², blood pressure 120/70 mmHg, pulses 82/min and he was dehydrated. From his laboratory exams his blood glucose was 391 mg/dl, glycosylated hemoglobin (HbA1c) 9,5%, C-peptide 0,6 ng/ml, Glutamic acid decarboxylase antibodies (Anti-GAD) and Pancreatic Islets antibodies (Anti-ICA) were both positive. On these findings the diagnosis of type 1 diabetes mellitus (T1DM) was made and the patient was started on insulin (basal – bolus regime). His father was fifty two years old and had also congenital aniridia and type 2 diabetes mellitus treated with oral hypoglycemic agents. A genetic test for the PAX6 gene was sent and results are expected.

Conclusion: Aniridia is a rare inherited condition and is mostly related to glucose intolerance and mild diabetes, but complete loss of insulin secretion and T1DM can also be found. Patients with aniridia need a close follow up, so that any disorder of glucose metabolism be detected on time.