Woodhouse-Sakati Syndrome: A Case Report from IndonesiaCorrespondence Address :
Dr. Lucky Aziza Abdullah Bawazir,
Jalan Diponegoro No. 71, Central Jakarta, DKI Jakarta, Indonesia.
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.
Delayed secondary sexual characteristics, Metabolic abnormalities, Young adult
Lucky Aziza Abdullah Bawazir. WOODHOUSE-SAKATI SYNDROME: A CASE REPORT FROM INDONESIA. Journal of Clinical and Diagnostic Research [serial online] 2019 January [cited: 2019 Jan 23 ]; 13:OD06-OD08. Available from
Date of Submission: Aug 26, 2018
Date of Peer Review: Oct 12, 2018
Date of Acceptance: Nov 09, 2018
Date of Publishing: Jan 01, 2019
FINANCIAL OR OTHER COMPETING INTERESTS: None.
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