Ambras syndrome (AS) is a special form of congenital universal hypertrichosis 
described for the first time by Baumeister et al. (1). This form differs from 
other forms of congenital hypertrichosis in the pattern of hair distribution and 
its associated anomalies. The molecular-genetic cause of AS is unknown; the 
association of AS with a pericentric inversion (8) (p11.2; q22) described in the 
case of Baumeister so far has been unique in the literature. This report is the 
tenth with clinical signs of AS so far described in the literature and the 
second with an inversion in chromosome 8 and the first with evaluation of 
peripheral androgens. The new-born girl presented with abundant and dark hair on 
the face and ears, on the shoulders and on the arms; the other parts of the body 
were covered with fine, lightly pigmented hair. The face showed many dysmorphic 
features. Chromosome analysis showed a paracentric inversion of one chromosome 
8. The breakpoints were localised at q12 and q22. The parental karyotypes were 
normal. Laboratory investigation showed normal plasma levels of testosterone, 
androstenedione (A), 17-hydroxyprogesterone, dehydroepiandrosterone-sulphate 
(DHA-S), free testosterone (FT), dihydrotestosterone (DHT) and 
3alpha-androstanediol-glucuronide (3AG). Here we report a chromosomal inversion 
similar to that found previously not associated with alterations in androgen 
plasma levels.