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Woodhouse-Sakati Syndrome

Last updated April 15, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Woodhouse-Sakati Syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Diabetes-Hypogonadism-Deafness-Intellectual Disability Syndrome
  • Diabetes Hypogonadism Deafness Mental Retardation Syndrome
  • Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation, and Electrocardiographic Abnormalities Syndrome

What is Woodhouse-Sakati Syndrome? (Definition/Background Information)

  • Woodhouse-Sakati Syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia
  • Approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three siblings from an Indian family, have been reported so far with this disorder
  • Woodhouse-Sakati Syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function. The disorder is transmitted in an autosomal recessive manner

(Source: Woodhouse-Sakati Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Woodhouse-Sakati Syndrome? (Age and Sex Distribution)

  • Woodhouse-Sakati Syndrome is a rare congenital disorder, and occurs at a frequency of less than 1:1000,000. The presentation of symptoms typically occurs in adolescence 
  • Thus far, approximately 30 patients from consanguineous Middle Eastern families, together with one Caucasian woman and three sibs from an Indian family, have been reported so far with this disorder

(Source: Woodhouse-Sakati Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

  • Both males and females may be affected
  • Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Woodhouse-Sakati Syndrome? (Predisposing Factors)

  • A positive family history may be an important risk factor, since Woodhouse-Sakati Syndrome can be inherited
  • Being the child of parents who are close blood relatives (such as first cousins) may increase the risk of developing genetic disorders such as Woodhouse-Sakati Syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Woodhouse-Sakati Syndrome? (Etiology)

  • Woodhouse-Sakati Syndrome is associated with mutations in the DCAF17 gene (2q31.1), encoding a nucleolar protein of unknown function
  • The disorder is transmitted in an autosomal recessive manner

(Source: Woodhouse-Sakati Syndrome; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Autosomal recessive: Autosomal recessive conditions are traits or disorders that occur when two copies of an abnormal gene have been inherited on a non-sex chromosome. If both parents have an autosomal recessive condition, there is a 100% likelihood of passing on the mutated genes to their children. If, however, only one mutant copy of the gene is inherited, the individual will be a carrier of the condition, but will not be present with any symptoms. Children born to two carriers, have a 25% chance of being homozygous dominant (unaffected), a 50% chance of being heterozygous (carrier), and a 25% chance of being homozygous recessive (affected).

What are the Signs and Symptoms of Woodhouse-Sakati Syndrome?

The signs and symptoms of Woodhouse-Sakati Syndrome may include the following:

Very frequently present symptoms in 80-99% of the cases:

  • Abnormal spermatogenesis
  • Abnormal T-wave
  • Alopecia
  • Aplasia/Hypoplasia of the eyebrow
  • Bilateral sensorineural hearing impairment
  • Choreoathetosis
  • Decreased serum estradiol
  • Decreased serum testosterone level
  • Decreased testicular size
  • Dysarthria
  • Dystonia
  • Hypergonadotropic hypogonadism
  • Hyperlipidemia
  • Hypoplasia of the fallopian tube
  • Hypoplasia of the uterus
  • Hypothyroidism
  • Insulin-resistant diabetes mellitus
  • Intellectual disability
  • Mental deterioration
  • Micropenis
  • Premature ovarian insufficiency
  • Protruding ear
  • Streak ovary

Occasionally present symptoms in 5-29% of the cases:

  • Anodontia
  • Hallucinations
  • Prominent nasal bridge
  • Prominent nose
  • Psychosis
  • Triangular face

In addition to the above, the following additional signs and symptoms may be present:

  • Abnormality of extrapyramidal motor function
  • Decreased serum insulin-like growth factor 1
  • Diabetes mellitus
  • Fine hair
  • Increased thyroid-stimulating hormone level
  • Sparse hair

(Source: Woodhouse-Sakati Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Woodhouse-Sakati Syndrome Diagnosed?

Woodhouse-Sakati Syndrome is diagnosed on the basis of the following information:

  • Complete physical examination
  • Thorough medical history evaluation
  • Assessment of signs and symptoms
  • Hearing tests
  • Laboratory tests
  • Imaging studies
  • Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Woodhouse-Sakati Syndrome?

The complications of Woodhouse-Sakati Syndrome may include:

  • Permanent hearing loss
  • Trauma/injury: Seizures can lead to fall injuries affecting the head, or cause bone fractures
  • Status epilepticus is a seizure that lasts longer than normal. A time duration of 30-60 minutes is generally considered a minimum requirement for usage of the term Status Epilepticus, to describe the condition. It is considered a serious life-threatening condition and is a medical emergency
  • Psychological issues; especially depression, anxiety, and in some cases suicidal tendencies are noted
  • Complications during pregnancy: Certain anti-epileptic medications increase the risk of birth defects
  • There is a potential for reduction in one’s fertility
  • Sudden unexplained deaths with Epilepsy: This phenomenon is not well understood, but could be related to disturbances in the heart's rhythm or due to breathing problems
  • Cardiac problems, if the flat T waves occur due to ischemia

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Woodhouse-Sakati Syndrome Treated?

There is no cure for Woodhouse-Sakati Syndrome, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that may develop.

How can Woodhouse-Sakati Syndrome be Prevented?

Currently, Woodhouse-Sakati Syndrome may not be preventable, since it is a genetic disorder.

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

Regular medical screening at periodic intervals with tests and physical examinations are recommended.

What is the Prognosis of Woodhouse-Sakati Syndrome? (Outcomes/Resolutions)

  • The prognosis of Woodhouse-Sakati Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
  • Individuals with mild conditions have better prognosis than those with severe symptoms and complications
  • Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Woodhouse-Sakati Syndrome:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 15, 2018
Last updated: April 15, 2018