Woodhouse-Sakati syndrome

Also known as: diabetes-hypogonadism-deafness-intellectual disability syndrome; extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia; hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome; hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities; WSS

Definition

Genetics Home Reference

Woodhouse-Sakati syndrome is a disorder that primarily affects the body's network of hormone-producing glands (the endocrine system) and the nervous system. The signs and symptoms of this condition, which gradually get worse, vary widely among affected individuals, even within the same family.

People with Woodhouse-Sakati syndrome produce abnormally low amounts of hormones that direct sexual development (hypogonadism), which typically becomes apparent during adolescence. Without hormone replacement therapy, affected individuals do not develop secondary sexual characteristics such as pubic hair, breast growth in females, or a deepening voice in males. Females with Woodhouse-Sakati syndrome do not have functional ovaries and may instead have undeveloped clumps of tissue called streak gonads. The uterus may also be small or absent in affected females. Males with this disorder have testes that produce little to no sperm. As a result, people with Woodhouse-Sakati syndrome usually have an inability to conceive children (infertility).

By their mid-twenties, almost all affected individuals develop diabetes mellitus, and they may also have reduced production of thyroid hormones (hypothyroidism). People with Woodhouse-Sakati syndrome also experience hair loss beginning in childhood that gradually gets worse, often resulting in the loss of all scalp hair (alopecia totalis) during adulthood. Eyelashes and eyebrows are sparse or absent, and affected men have little or no facial hair. Some affected individuals have additional characteristic facial features including a long, triangular face; widely spaced eyes (hypertelorism); and a prominent bridge of the nose.

More than half of people with Woodhouse-Sakati syndrome have neurological problems. A group of movement abnormalities called dystonias are common in affected individuals, generally beginning in adolescence or young adulthood. These movement abnormalities can include involuntary tensing of the muscles (muscle contractions) or twisting of specific body parts such as an arm or a leg. Other neurological features can include difficulty with speech (dysarthria) or swallowing (dysphagia), mild intellectual disability, and hearing loss caused by changes in the inner ears (sensorineural hearing loss). The hearing problems develop after the individual has acquired spoken language (post-lingual), usually in adolescence.

In some affected individuals, abnormal deposits of iron in the brain have been detected with medical imaging. For this reason, Woodhouse-Sakati syndrome is sometimes classified as part of a group of disorders called neurodegeneration with brain iron accumulation (NBIA).

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Orphanet

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

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Alopecia Hair loss Loss of hair from the head or body.
Hypertelorism Increased distance between eye sockets, Increased distance between eyes, Increased interpupillary distance, Widely spaced eyes, Excessive orbital separation, Widened interpupillary distance, Ocular hypertelorism, Wide-set eyes [more] Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes).
Dysarthria Difficulty articulating speech, Dysarthric speech Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Triangular face Triangular facies, Face with broad temples and narrow chin, Triangular facial shape [more] Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin.
Abnormality of extrapyramidal motor function Extrapyramidal tract signs, Extrapyramidal signs, Extrapyramidal symptoms, Extrapyramidal dysfunction [more] A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Dysphagia Poor swallowing, Deglutition disorder, Swallowing difficulty, Swallowing difficulties [more] Difficulty in swallowing.
Alopecia totalis Total alopecia Loss of all scalp hair.
Dystonia Dystonic movements, Dystonic disease An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Thyroiditis Thyroid gland inflammation Inflammation of the thyroid gland.
Neurodegeneration Neuro-degenerative disease, Progressive neurodegenerative disorder, Neurodegenerative disease [more] Progressive loss of neural cells and tissue.
Choreoathetosis Choreoathetoid movements Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Diabetes mellitus A group of abnormalities characterized by hyperglycemia and glucose intolerance.
Hypothyroidism Low T4, Underactive thyroid Deficiency of thyroid hormone.
Hypogonadism Decreased activity of gonads A decreased functionality of the gonad.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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