Woodhouse-Sakati syndrome

[MIM 241 800]

(intellectual diabetes-hypogonadism-deafness-deficiency syndrome)

Very rare: especially described in North Africa. Autosomal recessive transmission of mutations of the  DCAF17 or C2orf37 genes on 2q31. Associates a hypogonadism (around the age of 12-14 years), a temporal alopecia, a diabetes mellitus (around the age of 20 years), intellectual deficit and  extrapyramidal signs characterised by choreo-athetoid movements and dystonia.
Usual onset during adolescence. Other manifestations are very diverse: sensorineural hearing loss, T waves flattened ECG, convulsions, sensory polyneuropathy, a dysarthria (+ dysphagia), various craniofacial anomalies (high forehead, flattened occiput, triangular face, prominent nasal root, hypertelorism, downward slanting palpebral fissures), scoliosis, hyperreflexia and camptodactyly.

Anesthetic implications:

check glycemia, mental retardation

References : 

-        Agopiantz M, Corbonnois P, Sorlin A, Bonnet C et al.
Endocrine disorders in Woodhouse-Sakati syndrome : a systematic review of  literature.
J Endocrinol Invest 2014; 37: 1-7.

Updated: August 2016