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Woodhouse-Sakati Syndrome

We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

List of symptoms

Symptom/sign	Organ system	Percent affected	Pubmed id	Added on(yyyy-mm-dd)
Alopecia	integumentary	100 %	17167799	2015-05-06
Hypogonadism	reproductive	100 %	17167799	2015-05-06
Decreased serum IGF-1	circulatory	100 %	17167799	2015-05-06
Mental retardation	nervous	91 %	17167799	2015-05-06
Hearing loss	nervous	85 %	17167799	2015-05-06
Dystonia	nervous	67 %	17167799	2015-05-06
Basal ganglia pathology	nervous	53 %	17167799	2015-05-06
Leukodystrophy	nervous	47 %	17167799	2015-05-06
Diabetes mellitus type 2	endocrine	38 %	17167799	2015-05-06
Diabetes mellitus type 1	endocrine	26 %	17167799	2015-05-06
Hypothyroidism	endocrine	25 %	17167799	2015-05-06
Dysarthria	nervous	4 %	17167799	2015-05-06

List of references:

Autosomal-recessive syndrome with alopecia, hypogonadism, progressive extra-pyramidal disorder, white matter disease, sensory neural deafness, diabetes mellitus, and low IGF1.
Abdulaziz Al-Semari, Saeed Bohlega,

We explored the manifestations of an autosomal-recessive multisystemic disorder in several Saudi families. Recognized causes of progressive extra-pyramidal disorder and white matter disease were excluded and the neurological, imaging, endocrine, and skin manifestations of this syndrome described. The onset of these symptoms in these patients began in early adolescence and progressed more rapidly in males. All affected patients had total or partial alopecia, clinical and chemical evidence of hypogonadism (low levels of estradiol and testosterone); females had clear evidence of hypogonadism (streak or absent ovaries), and some patients had diabetes mellitus and/or sensorineural deafness. The constant biochemical abnormality was the low IGF-1. The neurological manifestations included moderate to severe intellectual decline and abnormality of muscle tone and posture with choreo-athetoid and dystonic movements resulting in gait difficulty, dysarthria, difficulty swallowing, and scoliosis. The MRI of brain demonstrated white matter involving cerebellum, brain stem, and cerebral structures, as well as abnormal decreased signal intensity in the basal ganglia with involvement of the substantia nigra. We conclude that the association of hypogonadism, alopecia, and persistent low IGF-1 is a significant autosomal recessive syndrome; it is prevalent in Saudi Arabia. We also demonstrate that the progressive extra-pyramidal disorder, white matter disease, and abnormal signals of the basal ganglia are common features of this syndrome. Sensorineural deafness and diabetes mellitus were recognized features.

American journal of medical genetics. Part A - Jan 2007