Woodhouse–Sakati syndrome

Woodhouse–Sakati syndrome, also called hypogonadism, alopecia, diabetes mellitus, intellectual disability and extrapyramidal syndrome,^[1] is a rare autosomal recessive^[2] multisystem disorder which causes malformations throughout the body, and deficiencies affecting the endocrine system.^[3]

Characteristics

The syndrome is characterized by alopecia, hypogonadism, hypothyroidism, hearing loss, intellectual disability and diabetes mellitus. Electrocardiogram anomalies have also been reported.^[2]

Cause and Genetics

Woodhouse–Sakati syndrome has an autosomal recessive pattern of inheritance.

Mutations in the C2ORF37 gene, located at human chromosome 2q22.3-q35, are believed to be the cause of Woodhouse–Sakati syndrome.^[1][4] The disorder is inherited in an autosomal recessive manner.^[2] This means the defective gene responsible for the disorder is located on an autosome (chromosome 2 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.

References