• Users Online: 184
  • Print this page
  • Email this page
CASE REPORTS
Year : 2020  |  Volume : 11  |  Issue : 3  |  Page : 214-217

H syndrome presenting as juvenile diabetes: an underdiagnosed entity


Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, Kerala, India

Correspondence Address:
Dr. Praveen V Pavithran
Department of Endocrinology, Amrita Institute of Medical Sciences and Research Centre, Amrita Vishwa Vidyapeetham, Kochi, Kerala.
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/JOD.JOD_3_20

Rights and Permissions

H syndrome is a rare recessively inherited histiocytosis resulting from mutations in the SLC29A3 gene which encodes the human equilibrative nucleoside transporter 3 (hENT3).This multisystem disorder can have myriad of presentations ,with skin lesions ,sensory hearing loss and insulin dependent diabetes being the most characteristic.The most important step in the correct diagnosis involves awareness about the entity and careful physical examination. Genetic analysis is essential to confirm the diagnosis as it has many shared clinical features with other histiocytosis, with systemic manifestations which may confuse the physician. Management is symptomatic depending on the clinical presentation.Here we describe two genetically proven patients with H syndrome in whom diagnosis was missed for several years.Both patients presented in their second decade with clinical features suggestive of H syndrome. Increasing awareness is contributing to more reporting and helps in avoiding unnecessary evaluation.


[FULL TEXT] [PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed148    
    Printed14    
    Emailed0    
    PDF Downloaded19    
    Comments [Add]    

Recommend this journal