Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat
Pfeiffer, R. A. ; Rauch, A. ; Trautmann, U. ; Dörr, H. G. ; Hiort, O. ; Scherer, G. ; Rösch, G. ; Papadopoulos, T. ; v. d. Hardt, K. ; Lachmann, E.
Springer
Published 1999
Springer
Published 1999
| ISSN: |
1432-1076
|
|---|---|
| Keywords: |
Key words Deletion 9p ; Duplication 8q ; Defective male sexual morphogenesis
|
| Source: |
Springer Online Journal Archives 1860-2000
|
| Topics: |
Medicine
|
| Notes: |
Abstract 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. Conclusion This observation lends further support to the hypothesis that genetic factors are located at 9p23-ter which are involved in normal sex determination.
|
| Type of Medium: |
Electronic Resource
|
| URL: |