The objective of the current study was to identify the associations be
tween phenotype and genotype in children with nocturnal enuresis. Of t
he total of 167 wetting children, aged 5-10 years, without neurologica
l or structural forms of incontinence, 110 were nocturnal enuretics. T
he examinations included a full psychiatric and psychological assessme
nt, a paediatric and neurological examination, a family history with p
edigree, ultrasonography, uroflowmetery, urinanalysis and bacteriology
. Children with secondary nocturnal enuresis (n = 28) had a significan
tly higher rate of behavioural disorders, life events and continuous p
sychosocial stress than those with primary nocturnal enuresis (n = 82)
. Of the latter group, children with primary monosymptomatic nocturnal
enuresis (n = 50) had an especially low rate of behavioural problems,
when in comparison to primary non-monosymptomatic nocturnal enuretics
(n = 32). Formal genetics point to a high genetic predisposition to n
octurnal enuresis in all subgroups. Linkage studies to markers on chro
mosomes 8, 12 and 13 demonstrate both clinical, as well as genetic het
erogeneity in nocturnal enuresis.