Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene

Abstract Background Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with partial deletion the short arm chromosome 4. To establish genotype–phenotype correlation; we carried out molecular cytogenetic analysis on two Tunisian WHS patients. Patient 1 was boy 1-year-old, presented typical phenotype while patient 2, 2 days an hypospadias, micropenis cryptorchidie in addition to phenotype. Both array comparative genomic hybridization fluorescence situ techniques were used. Results showed that had greater size (4.8 Mb) 4 than (3.4 Mb). Here, notice larger deletion, more genes are likely be involved, severe be. If analyze uncommon deleted region between patient1 found Muscle Segment Homeobox ( MSX1 ) gene included this region. critical transcriptional repressor factor, expressed ventral side developing anterior pituitary implicated gonadotrope differentiation. Msx1 acts as negative regulatory development by repressing gonadotropin releasing hormone GnRH during embryogenesis. We hypothesized our may deregulate androgen synthesis . Conclusion Based function, its absence might indirectly responsible for hypospadias contributing spatiotemporal regulation transcription development.