Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat.
We report on a male infant with ambiguous genitalia (scrotal hypospadias, sinus urogenitalis) trisomic for 8q23-ter and monosomic for 9p23-ter, who shared craniofacial and other abnormalities with either phenotype. Gonadal histology was nearly normal for age. Normal endocrinological findings and exclusion of mutations in SRY, androgen receptor and alpha-reductase genes point to supplementary gene(s) located in 9p2305-ter, haplo-insufficiency (by deletion) of which is expected to cause defective male morphogenesis.


CONCLUSIONS
This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.
Pfeiffer
R A
RA
Institut für Humangenetik, Universität Erlangen-Nürnberg, Erlangen, Germany. RAPFEIFF@humangenetik.uni.erlangen.de
Rauch
A
A
Trautmann
U
U
Dörr
H G
HG
Hiort
O
O
Scherer
G
G
Rösch
G
G
Papadopoulos
T
T
v d Hardt
K
K
Lachmann
E
E
D000015:Abnormalities, Multiple / Q000235:genetics; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8; D002899:Chromosomes, Human, Pair 9; D020440:Gene Duplication; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D014314:Trisomy