ESPE Abstracts (2019) 92 P1-184

Diabetes and Insulin (1)

A Case with Monogenic Diabetes Caused by RFX6 Mutation in a 14-Year-Old-Girl

Goo Lyeon Kim1, Soo Heon Kwak2, Jeesuk Yu1

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1Dankook University Hospital, Cheonan, Korea, Republic of. 2Seoul National University Hospital, Seoul, Korea, Republic of


Introduction: In previous times, diabetes mellitus in children and adolescents was usually type 1 diabetes which was caused by autoimmune beta cell destruction, but due to the increased prevalence of obesity, the incidence of type 2 diabetes was explosively increased in children and adolescents. The underlying mechanism of childhood-onset type 2 diabetes mellitus may be different to the adult-onset type 2 diabetes. It is worthwhile to find new causes of monogenic diabetes to understand the mechanism of glycemic dysregulation as well as for management of diabetes mellitus. Therefore, it is useful to conduct genetic study in children with type 2 feature.

Case: A 14-year-old-girl was diagnosed as having type 2 diabetes mellitus. Initially, she was presented with glycosuria, polydipsia, and polyuria. Initial HbA1c was 11.7%. She had no specific past medical problems. Her mother was already diagnosed as diabetes mellitus and on medication. Her weight was 66.3kg (95 percentile) and height was 148.3cm (3 percentile). Acanthosis nigricans was detected in neck and axillary areas. Blood glucose, insulin, and C-peptide were 345 mg/dL, 27.2 uIU/mL, and 8.7 ng/mL, respectively. There was neither ketonuria nor acidosis. Blood lipid profile showed 200 mg/dL of cholesterol, 45 mg/dL of HDL cholesterol, and 144 mg/dL of triglyceride. Thyroid function test showed normal. She was managed with long-acting insulin and oral hypoglycemic agent (MetforminTM) and her HbA1c level was 9.3% at one year after the diagnosis. To find the candidate gene, targeted exome sequencing which included 29 genes associated with monogenic diabetes was performed. Nonsense mutation of the gene RFX6 was found (c.2661T>A, p.Tyr887*). Her mother showed same mutation of RFX6 gene. It was known that RFX6 gene mutation may contribute to beta-cell dysfunction and be associated with lower fasting and stimulated gastric inhibitory polypeptide (GIP) levels.

Conclusion: It may be recommended to perform the genetic test to find the candidate gene of type 2 diabetes mellitus which developed in children and adolescents. Here we report a case with monogenic diabetes caused by RFX6 mutation in a 14-year-old-girl.

Volume 92

58th Annual ESPE meeting

Vienna, Austria
19 Sep 2019 - 21 Sep 2019

European Society for Paediatric Endocrinology 

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