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Defective sexual development in an infant with 46, XY, der(9)t(8;9)(q23.1;p23)mat |
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| Authors: | R. A. Pfeiffer A. Rauch U. Trautmann H. G. Dörr O. Hiort G. Scherer G. Rösch T. Papadopoulos K. v. d. Hardt E. Lachmann |
| Affiliation: | Institut für Humangenetik, Universit?t Erlangen-Nürnberg, Schwabachanlage 10, D-91054 Erlangen, Germany, e-mail: RAPFEIFF@humangenetik.uni.erlangen.de, Tel.: +49 9131-852318, Fax.: +49 9131-209297, DE Klinik für Kinder und Jugendliche, Universit?t Erlangen-Nürnberg, Erlangen, Germany, DE Klinik für P?diatrie der Medizinischen Hochschule, Lübeck, Germany, DE Institut für Anthropologie und Humangenetik der Universit?t Freiburg, Freiburg, Germany, DE Urologische Klinik und Poliklinik, Universit?t Erlangen-Nürnberg, Erlangen, Germany, DE Pathologisches Institut der Universit?t Erlangen-Nürnberg, Erlangen, Germany, DE Kinderklinik im Klinikum Weiden, Weiden, Germany, DE |
| 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. Received: 26 February 1998 / Accepted: 28 May 1998 |
| Keywords: | Deletion 9p Duplication 8q Defective male sexual morphogenesis |
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