Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat

R. A. Pfeiffer*, A. Rauch, U. Trautmann, H. G. Dörr, O. Hiort, G. Scherer, G. Rösch, T. Papadopoulos, K. V. D. Hardt, E. Lachmann

*Corresponding author for this work
9 Citations (Scopus)


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.

Original languageEnglish
JournalEuropean Journal of Pediatrics
Issue number3
Pages (from-to)213-216
Number of pages4
Publication statusPublished - 1999

Research Areas and Centers

  • Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)


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