Three siblings with Woodhouse–Sakati syndrome in an Indian family

Abstract

Woodhouse-Sakati syndrome consists of alopecia, hypogonadism, diabetes mellitus, mild mental retardation, sensorineural deafness and ECG abnormalities. The proband described here has the above-mentioned features and presented with idiopathic thrombocytopenic purpura not reported before. Phenotypic variability is present in the three affected siblings. The two sisters have hypergonadotropic hypogonadism and the brother has hypogonadotropic hypogonadism. Camptodactyly of fourth and fifth fingers is seen in proband and her brother. We report for the first time three affected siblings of Woodhouse-Sakati syndrome in an Indian family.

A novel C2orf37 mutation causes the first Italian cases of Woodhouse Sakati syndrome

“…Electrocardiogram (ECG) abnormalities and reduced insulin‐like growth factor‐1 levels may be present (3). So far only about 30, mostly Middle Eastern (1, 4, 5), families and only four different mutations (p.Ala147HisfsX9, c.50delC, c. 1422+5G> T and c.1091+6T>G) have been reported (1, 3, 6, 7). Here, we report the first WHS Italian family (Fig.…”

Woodhouse-Sakati Syndrome With Psychosis and Basal Ganglia Calcification: A Case Report

“…In spite of being rare, Woodhouse syndrome should be considered in patients presenting with combinations of neuropsychological, endocrinal, and ectodermal manifestations, especially in the Middle East and Arab world. To date, only few dozens of families were reported to have the disease, especially in Saudi Arabia [5,6,11], Pakistan [12], Tunisia [9], Turkey [13], Croatia [14], India [15], and Italy [16]. The cases reported have various clinical, phenotypic, and genotypic patterns.…”

Woodhouse-Sakati Syndrome in an Israeli-Arab Family Presenting with Youth-Onset Diabetes Mellitus and Delayed Puberty

“…The proband case was diagnosed during adolescence whilst most cases thus far were diagnosed during adulthood [1,2,3,4,5,6,7,8]. Three additional family members of her consanguineous family were affected: 2 brothers and 1 female cousin.…”

“…It is a multisystemic disorder characterized by hypogonadism (mostly hypergonadotrophic but rarely hypogonadotrophic in males), diabetes mellitus (DM), deafness, partial alopecia or short, sparse, fine hair, and variable neurological manifestations including extrapyramidal symptoms and mental retardation [1,2]. WSS is a rare autosomal recessive disorder described in a few consanguineous families from Saudi Arabia, Turkey, Croatia, Italy, France and India [2,3,4,5,6,7,8,9]. …”