Skip to Main Content


Syndrome characterized by hypogonadism, alopecia, and progressive neurologic and intellectual symptoms.


Has been suggested to be a newly discovered autosomal recessive disorder based on its presence in two children (a boy and a girl) of consanguineous parents.


The boy's childhood was described as uneventful. First symptoms were noted at about age 12 years, when speech difficulties and learning problems and gait abnormalities were noted. Fine motor skills started to decline thereafter, mainly as a consequence of reduced muscle strength and neurologic control. Absence of puberty (prepubertal penis and testes) and nondevelopment of secondary male sex characteristics were diagnosed at age 17 years. Neurologic examination at that time showed dystonia and dysarthria that, by age 47 years, had progressed to almost complete inability to walk (as a consequence of dystonic and choreoathetotic movements) and speak, combined with eating and drinking difficulties. Alopecia was noted in early adulthood. The sister was affected earlier than her brother, with learning problems noted in primary school, requiring special education. Her motor skills declined faster, and she was wheelchair-bound by the time she was in her early 20s. She also showed signs of primary hypogonadism and no development of secondary female sex characteristics. Dysarthria and alopecia occurred at age 14 years and were slowly progressive.


None reported. However, depending on the age and severity of neurologic symptoms, recurrent pulmonary aspirations are possible, and a preoperative chest radiograph might be helpful. Long-term muscle inactivity (wheelchair-bound) precludes the use of succinylcholine because of the risk of a hyperkalemic response.

Devriendt K, Legius E, Fryns JP: Progressive extrapyramidal disorder with primary hypogonadism and alopecia in sibs: A new syndrome? Am J Med Genet 62:54, 1996.  [PubMed: 8779325]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.


About MyAccess

If your institution subscribes to this resource, and you don't have a MyAccess profile, please contact your library's reference desk for information on how to gain access to this resource from off-campus.

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.