Background: Prader-Willi syndrome (PWS) is a genetic disorder characterized
by mental retardation, appetite dysregulation, and a high risk for obsessi
ve-compulsive disorder (OCD). Microscopic abnormalities of the hypothalamus
have been described in PWS, and oxytocin has been implicated in both appet
ite regulation and OCD.
Methods: Oxytocin and arginine vasopressin (AVP) were measured in the cereb
rospinal fluid of 5 subjects with PWS (2 male, 3 female) and in 6 normal co
ntrol subjects (all female).
Results: CSF oxytocin was elevated in PWS (9.2 +/- 3.9 pmol/L) as compared
to normal control subjects (5.1 +/- 0.9 pmol/L, p = 0.045), a finding that
was more significant when excluding male subjects from analysis (p = 0.02).
AVP was not significantly different between the groups as a whole.
Conclusions: These data provide further evidence for hypothalamic and oxyto
cinergic dysfunction in PWS. The associations between oxytocin, appetite re
gulation, and obsessive compulsive symptomatology in PWS warrant further in
vestigation. Biol Psychiatry 1998;44:1349-1352 (C) 1998 Society of Biologic
al Psychiatry.