# New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication

## TL;DR

A 7-year-old boy with Joubert syndrome developed type 1 diabetes, a rare endocrine complication not previously reported in this condition.

## Contribution

This is the first reported case of new-onset type 1 diabetes in a child with Joubert syndrome.

## Key findings

- A 7-year-old male with Joubert syndrome presented with symptoms and was diagnosed with type 1 diabetes.
- This case highlights type 1 diabetes as a rare endocrine complication of Joubert syndrome.
- The report adds to the understanding of endocrine manifestations in Joubert syndrome.

## Abstract

Background and Clinical Significance: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the “molar tooth sign”), hypotonia, and developmental delays. Joubert syndrome is a ciliopathy that affects multiple systems including the central nervous system, eyes, kidneys, liver, respiratory, musculoskeletal system, cardiovascular system, and endocrine system. Endocrine abnormalities are not uncommon in Joubert syndrome, such as growth hormone deficiency, thyroid hormone deficiency, central diabetes insipidus, hypopituitarism, micropenis, and obesity. However, a new-onset type 1 diabetes in childhood is not common in Joubert syndrome. Case Presentation: Herein, we report a case of a 7-year-old male with a history of Joubert syndrome presenting with polydipsia, polyuria, weight loss, and hyperglycemia who was diagnosed with type 1 diabetes. Conclusions: While diabetes has been reported as a rare complication in Joubert syndrome, this is the first case report of Joubert syndrome to accentuate new-onset type 1 diabetes as an endocrine complication.