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.
Original language | English |
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Journal | European Journal of Pediatrics |
Volume | 158 |
Issue number | 3 |
Pages (from-to) | 213-216 |
Number of pages | 4 |
ISSN | 0340-6199 |
DOIs | |
Publication status | Published - 1999 |
Research Areas and Centers
- Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)