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Start free with EleplanWoodhouse-Sakati syndrome
ORPHA:3464Disease
Also called Diabetes-hypogonadism-deafness-intellectual disability syndrome · Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
What it is
Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.
Key facts
- Prevalence
- <1 / 1 000 000
- Age of onset
- Adolescent, Childhood
- Inheritance
- Autosomal recessive
- Classified as
- Disease
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
29- Abnormal spermatogenesis
- Abnormal T-wave
- Alopecia
- Aplasia/Hypoplasia of the eyebrow
- Bilateral sensorineural hearing impairment
- Choreoathetosis
- Decreased response to growth hormone stimulation test
- Decreased serum estradiol
- Decreased serum testosterone concentration
- Decreased testicular size
- Delayed puberty
- Delayed skeletal maturation
- Dysarthria
- Dystonia
- Growth delay
- Hyperinsulinemia
- Hyperlipidemia
- Hypogonadism
- Hypoplasia of the fallopian tube
- Hypoplasia of the uterus
- Hypothyroidism
- Insulin-resistant diabetes mellitus
- Intellectual disability, mild
- Mental deterioration
- Micropenis
- Osteopenia
- Premature ovarian insufficiency
- Protruding ear
- Streak ovary
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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