Woodhouse-Sakati Syndrome: A Case Report from Indonesia
Journal Title: Journal of Clinical and Diagnostic Research - Year 2019, Vol 13, Issue 1
Abstract
ABSTRACT Woodhouse-Sakati Syndrome (WSS) is an extremely rare autosomal recessive neuroendocrine disease with loss of function mutation of DCAF17 gene, located on chromosome 2q31. This report discusses the first documented case of suspected WSS in Indonesia in a 20-year-old female patient with multiple metabolic abnormalities, delayed puberty, secondary osteoporosis, hydronephrosis, colitis, and recurrent urinary tract infection, possibly due to partial urinary retention. The patient was treated with 6 units of insulin aspart (three times a day) and 8 units of insulin Detemir (once a day) for diabetes mellitus. She also received Levothyroxine for hypothyroidism; calcitriol for osteoporosis; as well as bladder training and antibiotics for recurrent urinary tract infection. Within the last one year, the patient has been admitted to hospital three times due to uncontrolled blood glucose level and clinical manifestation of urinary tract infection and colitis. Although the patient has been treated in a top referral hospital in Indonesia, problems in confirming diagnosis of Woodhouse-Sakati syndrome in this patient still persists due to the absence of facilities for genetic sequence analysis and limitations of financial coverage for the patient and her family.
Authors and Affiliations
Lucky Aziza Abdullah Bawazir
Keywords
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- EP ID EP556761
- DOI 10.7860/JCDR/2019/38431.12481
- Views 127
- Downloads 0
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