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Case Reports
. 2024 Oct;33(4):224-228.
doi: 10.1297/cpe.2024-0016. Epub 2024 Jul 20.

Initial clinical manifestations in a young male with RFX6-variant-associated diabetes

Kazuhisa Akiba  1   2 , Hiroaki Zukeran  2 , Yukihiro Hasegawa  2   3 , Maki Fukami  1
Affiliations
Case Reports

Initial clinical manifestations in a young male with RFX6-variant-associated diabetes

Kazuhisa Akiba et al. Clin Pediatr Endocrinol. 2024 Oct.

Abstract

To date, heterozygous loss-of-function variants of RFX6 have been identified in 13 families with diabetes. Here, we present initial clinical information regarding a young male with diabetes who carried a heterozygous nonsense variant of RFX6 (p.Arg377Ter) previously reported in his family with diabetes. At 11 yr and 7 mo of age, the patient experienced severe thirst and hyperglycemia (331-398 mg/dL). Laboratory tests revealed elevated levels of glycated hemoglobin (HbA1c) (47 mmol/mL, 6.5%) and the Homeostatic Model for Insulin Resistance (HOMA-IR) (3.4). Blood glucose self-monitoring demonstrated grossly normal blood glucose levels, together with occasional postprandial hyperglycemia, and a few episodes of hypoglycemia. An oral glucose tolerance test revealed mild hyperglycemia and a delayed peak insulin level. His laboratory indices improved over two years with self-control of diet and exercise. These results indicate that the initial presentation of RFX6-variant-associated diabetes includes occasional hyperglycemia and hypoglycemia in response to changes in lifestyle. The possible association between RFX6 variants and mild insulin resistance requires further validation in future studies.

Keywords: RFX6; insulin resistance; insulin secretion.

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Conflict of interest statement

Y.H. received seminar speaker fees from Novo Nordisk.

Figures

Fig. 1.
Fig. 1.
Patient growth chart and body mass index (BMI) percentile curve. Height and weight are plotted against the reference curves for Japanese children (http://jspe.umin.jp/medical/chart_dl.html). SD, standard deviation.
Fig. 2.
Fig. 2.
Patient laboratory data. (a) The record of self-monitored blood glucose levels from ages 11 yr and 7 mo to 11 yr and 10 mo. The red dots indicate hypoglycemia (< 70 mg/mL). (b) Results of the oral glucose tolerance test (OGTT). The black, grey, and white plots represent results at 11 yr and 7 mo, 12 yr and 6 mo, and 14 yr and 10 mo of age, respectively.
See this image and copyright information in PMC

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