• Mariam S Alharbi.
• From the Department of Internal medicine, college of Medicine, Qassim University, Buyrydah, Kingdom of Saudi Arabia.
• Saudi Med J. 2021 Nov 1; 42 (11): 1237-1242.

AbstractWoodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive inheritance pattern. The disease is characterized by a group of disorders, including diabetes mellitus, alopecia, hypogonadism, intellectual disability, and progressive extrapyramidal signs. This syndrome is related to an inherited neurodegenerative disorder's heterogeneous group characterized by the accumulation of iron in the brain, caused by a mutation in the DCAF17 gene. This report discusses the case of 3 Saudi sisters having WWS. The 3 sisters aged 18, 22, and 25 years took birth to consanguineous parents (first-degree cousins). The sisters initially had normal developmental growth with deprived scholastic performance because of the intellectual difficulties. At puberty, the secondary sexual characteristics were not developed in the patients, and they faced primary amenorrhea. They were found to have features typical of WSS, but they also had gynecological anomalies, which are considered unusual findings in WSS patients.Copyright: © Saudi Medical Journal.

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