What question did this study set out to answer?

This research aims to describe unique cases of diabetes associated with the SLC29A3 mutation in H syndrome.

Atypical form of pediatric diabetes due to SLC29A3 mutation: Insights from two cases of H syndrome

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Two case reports detail diabetes management challenges in patients with SLC29A3 mutations, indicating the need for endocrinologist awareness.

This research aims to describe unique cases of diabetes associated with the SLC29A3 mutation in H syndrome.
Presented two cases of H syndrome with diabetes, one newly diagnosed and one for follow-up.
Conducted whole-exome sequencing to identify mutations and clarify diagnosis.
Monitored glycemic control and treatment responses in both patients.
First case, a 6-year-old girl, required high insulin doses for poor glycemic control during hospitalization.
Second case, a 21-year-old male, had diabetes for four years before skin symptoms appeared; treatment had limited impact.
Diabetes severity in H syndrome shows variability, complicating management strategies.

Rajendran et al. (2026) studied this question.

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View Full Paper

Ask AI

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Authors

Two case reports detail diabetes management challenges in patients with SLC29A3 mutations, indicating the need for endocrinologist awareness.

This research aims to describe unique cases of diabetes associated with the SLC29A3 mutation in H syndrome.
Presented two cases of H syndrome with diabetes, one newly diagnosed and one for follow-up.
Conducted whole-exome sequencing to identify mutations and clarify diagnosis.
Monitored glycemic control and treatment responses in both patients.
First case, a 6-year-old girl, required high insulin doses for poor glycemic control during hospitalization.
Second case, a 21-year-old male, had diabetes for four years before skin symptoms appeared; treatment had limited impact.
Diabetes severity in H syndrome shows variability, complicating management strategies.

Rajendran et al. (2026) studied this question.

View Full Paper

Ask AI

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