Clinical Guidance

There is no clear genotype-phenotype correlation. Even individuals with the same Saudi Arabian founder DCAF17 pathogenic variant have displayed marked phenotypic variability.

Source: GeneReviews — "Woodhouse-Sakati Syndrome"

Diagnostic Criteria

No consensus clinical diagnostic criteria for Woodhouse-Sakati syndrome (WSS) have been published.

Suggestive Findings

WSS should be suspected in individuals with any combination of the following clinical, family history, neuroimaging, and neurophysiology findings.

Endocrine

• Hypogonadism (100% of individuals), hypogonadotropic in males and hypergonadotropic in females

• Primary amenorrhea in females

• Lack of development of secondary sexual characteristics in males and females

• Low insulin-like growth factor 1 (IGF-1) (100%)

• Adolescent- to young adult-onset diabetes mellitus (66%)

• Hypothyroidism (30%)

Alopecia. Hair loss beginning in childhood or adolescence, resulting in partial-to-complete loss of scalp hair and eyelashes (100%) (, )

Neurologic

Source: GeneReviews — "Woodhouse-Sakati Syndrome"

Differential Diagnosis

Table 2. Disorders/Phenotypes to Consider in the Differential Diagnosis of Woodhouse-Sakati Syndrome

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Woodhouse-Sakati syndrome (WSS), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with Woodhouse-Sakati Syndrome

Source: GeneReviews — "Woodhouse-Sakati Syndrome"

Clinical Guidance

Persons with dystonia should avoid situations in which the risk of falling is increased.

Source: GeneReviews — "Woodhouse-Sakati Syndrome"

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "Woodhouse-Sakati Syndrome"

Surveillance Guidelines

Table 5.

Recommended Surveillance for Individuals with Woodhouse-Sakati Syndrome

System/Concern | Evaluation | Frequency

Endocrine

| Ask about menstrual cycle (women) or sexual dysfunction (men) to screen for hypogonadism. | Beginning at age 12-14 yrs

Screening for type 2 diabetes mellitus by standard clinical assays incl fasting glucose level, hemoglobin A1c, or oral glucose tolerance test | Annually beginning at age 20 yrs

Thyroid function studies to incl TSH free T4

Serum IGF-1 | Every 3-5 yrs

Neurologic

| Assessment for dystonia | Annually

Speech language assessment for dysarthria dysphagia | As needed

Developmental assessment | Annually throughout childhood

Audiology eval | Annually

Source: GeneReviews — "Woodhouse-Sakati Syndrome"