Tawfeg Ben Omran
Hamad Medical Corporation, Qatar
Posters & Accepted Abstracts: J Diabetes Metab
Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouseâ??Sakati syndrome (WSS)] is rare autosomal recessive neuroendocrine and ectodermal disorder. The diagnosis is confirmed in. proband with suggestive clinical findings and biallelic pathogenic variants in DCAF17 (formerly known as C2orf37) on molecular genetic testing. Diabetes mellitus (DM), either type. (insulin-dependent) or type. (non-insulin-dependent), was reported in 62% of individuals under age 25 years and 95% of those over age 35 years. To date 32 families (76 affected individuals) have been reported. We report on an additional 20 patients from. highly consanguineous Tribe from Qatar, presenting with interfamilial phenotypic variability. We will describe in details the natural course and the interfamilial phenotypic variability of WSS that may lead to challenges in making the diagnosis. In addition, to alert Endocrinologist to this important syndromic form of DM and highlights that WSS probably not as rare among the Arabs as previously thought.
Email: tawben11@hotmail.com
