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Genitourinary Anomalies in Mowat-Wilson Syndrome with Deletion/Mutation in the Zinc Finger Homeo Box 1B Gene (ZFHX1B).

Authors :
Garavelli
Cerruti-Mainardi
Virdis
Pedori
Pastore
Godi
Provera
Rauch
Zweier
Zollino
Banchini
Longo
Mowat
Neri
Bernasconi
Source :
Hormone Research; 2005, Vol. 63 Issue 4, p187-192, 6p
Publication Year :
2005

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. Copyright © 2005 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
03010163
Volume :
63
Issue :
4
Database :
Complementary Index
Journal :
Hormone Research
Publication Type :
Academic Journal
Accession number :
17312020
Full Text :
https://doi.org/10.1159/000085894