New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication
<b>Background and Clinical Significance:</b> 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 developmen...
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MDPI AG
2025-04-01
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| author | Yutaka Furuta Erica T. Nelson Rory J. Tinker Angela R. Grochowsky |
| author_facet | Yutaka Furuta Erica T. Nelson Rory J. Tinker Angela R. Grochowsky |
| author_sort | Yutaka Furuta |
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| description | <b>Background and Clinical Significance:</b> 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. <b>Case Presentation:</b> 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. <b>Conclusions:</b> 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. |
| format | Article |
| id | doaj-art-37ac8021493f44c9963cac932dd40bf2 |
| institution | DOAJ |
| issn | 2571-841X |
| language | English |
| publishDate | 2025-04-01 |
| publisher | MDPI AG |
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| spelling | doaj-art-37ac8021493f44c9963cac932dd40bf22025-08-20T03:16:39ZengMDPI AGReports2571-841X2025-04-01825710.3390/reports8020057New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine ComplicationYutaka Furuta0Erica T. Nelson1Rory J. Tinker2Angela R. Grochowsky3Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USADepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USADepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USADepartment of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA<b>Background and Clinical Significance:</b> 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. <b>Case Presentation:</b> 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. <b>Conclusions:</b> 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.https://www.mdpi.com/2571-841X/8/2/57ciliopathyJoubert syndrometype 1 diabetes |
| spellingShingle | Yutaka Furuta Erica T. Nelson Rory J. Tinker Angela R. Grochowsky New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication Reports ciliopathy Joubert syndrome type 1 diabetes |
| title | New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication |
| title_full | New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication |
| title_fullStr | New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication |
| title_full_unstemmed | New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication |
| title_short | New-Onset Type 1 Diabetes in a Child with Joubert Syndrome: A Rare Endocrine Complication |
| title_sort | new onset type 1 diabetes in a child with joubert syndrome a rare endocrine complication |
| topic | ciliopathy Joubert syndrome type 1 diabetes |
| url | https://www.mdpi.com/2571-841X/8/2/57 |
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