Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B): Report of three Italian cases with hypospadias and review

L. Garavelli, P. Cerruti-Mainardi, R. Virdis, S. Pedori, G. Pastore, M. Godi, S. Provera, A. Rauch, C. Zweier, M. Zollino, G. Banchini, N. Longo, D. Mowat, G. Neri, S. Bernasconi

Research output: Contribution to journalArticlepeer-review

Abstract

Hypospadias, when the urethra opens on the ventral side of the penis, is a common malformation seen in about 3 per 1,000 male births. It is a complex disorder associated with genetic and environmental factors and can be part of genetic syndromes. Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, Hirschsprung disease, microcephaly and mental retardation. It is caused by mutations in the zinc finger homeo box 1B gene, ZFHX1B (SIP1). To date, 68 deletion/mutation-positive cases have been reported. Genitourinary anomalies are common in MWS. Here we report that hypospadias is common in males with this syndrome. In 39 patients where this information was available, hypospadias was present in 46% of patients (18/39). In the 3 Italian male cases reported here, hypospadias was always present. MWS should be considered by endocrinologists in patients with hypospadias associated with developmental delays/mental retardation, in particular in the presence of a distinct facial phenotype.

Original languageEnglish
Pages (from-to)187-192
Number of pages6
JournalHormone Research
Volume63
Issue number4
DOIs
Publication statusPublished - 2005

Keywords

  • Craniofacial phenotype
  • Hirschsprung disease
  • Hypospadias
  • Mowat-Wilson syndrome, genitourinary anomalies
  • ZFHX1B gene (SIP1)
  • Zinc finger homeo box 1B gene, ZFHX1B

ASJC Scopus subject areas

  • Endocrinology

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