Literature DB >> 12394752

Chromosomal anomalies in cryptorchidism and hypospadias.

Marta Moreno-Garcia1, Emilia Barreiro Miranda.   

Abstract

PURPOSE: We studied the incidence of chromosomal anomalies in patients with cryptorchidism and hypospadias to determine the value of routine karyotyping in this population.
MATERIALS AND METHODS: Blood samples from 984 patients with cryptorchidism and/or hypospadias were studied for chromosome analysis.
RESULTS: Chromosomal anomalies were detected in 27 of the 916 patients (2.94%) with cryptorchidism and in 7 of the 100 (7%) with hypospadias. There were chromosomal aberrations in 13 of the 706 patients (1.84%) with isolated cryptorchidism (no additional congenital abnormalities) and in 14 of the 210 (6.67%) with cryptorchidism with associated anomalies. We identified normal karyotypes in 26 patients with isolated hypospadias, although 7 of the 74 (9.46%) with hypospadias and additional abnormalities had chromosomal aberrations.
CONCLUSIONS: It is important to perform karyotyping in these patients, mainly when they show associated abnormalities other than cryptorchidism or hypospadias. However, cost-benefit analysis must be done in each case.

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Year:  2002        PMID: 12394752     DOI: 10.1097/01.ju.0000029562.62482.74

Source DB:  PubMed          Journal:  J Urol        ISSN: 0022-5347            Impact factor:   7.450


  7 in total

Review 1.  Genetic and environmental factors in the aetiology of hypospadias.

Authors:  Mathew George; Francisco J Schneuer; Sarra E Jamieson; Andrew J A Holland
Journal:  Pediatr Surg Int       Date:  2015-03-06       Impact factor: 1.827

Review 2.  The Genetic and Environmental Factors Underlying Hypospadias.

Authors:  Aurore Bouty; Katie L Ayers; Andrew Pask; Yves Heloury; Andrew H Sinclair
Journal:  Sex Dev       Date:  2015-11-28       Impact factor: 1.824

3.  Identification of de novo copy number variants associated with human disorders of sexual development.

Authors:  Mounia Tannour-Louet; Shuo Han; Sean T Corbett; Jean-Francois Louet; Svetlana Yatsenko; Lindsay Meyers; Chad A Shaw; Sung-Hae L Kang; Sau Wai Cheung; Dolores J Lamb
Journal:  PLoS One       Date:  2010-10-26       Impact factor: 3.240

4.  Pivotal role of the muscle-contraction pathway in cryptorchidism and evidence for genomic connections with cardiomyopathy pathways in RASopathies.

Authors:  Carlo V Cannistraci; Jernej Ogorevc; Minja Zorc; Timothy Ravasi; Peter Dovc; Tanja Kunej
Journal:  BMC Med Genomics       Date:  2013-02-14       Impact factor: 3.063

5.  UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development.

Authors:  S Faisal Ahmed; John C Achermann; Wiebke Arlt; Adam H Balen; Gerry Conway; Zoe L Edwards; Sue Elford; Ieuan A Hughes; Louise Izatt; Nils Krone; Harriet L Miles; Stuart O'Toole; Les Perry; Caroline Sanders; Margaret Simmonds; A Michael Wallace; Andrew Watt; Debbie Willis
Journal:  Clin Endocrinol (Oxf)       Date:  2011-07       Impact factor: 3.478

6.  Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015).

Authors:  S Faisal Ahmed; John C Achermann; Wiebke Arlt; Adam Balen; Gerry Conway; Zoe Edwards; Sue Elford; Ieuan A Hughes; Louise Izatt; Nils Krone; Harriet Miles; Stuart O'Toole; Les Perry; Caroline Sanders; Margaret Simmonds; Andrew Watt; Debbie Willis
Journal:  Clin Endocrinol (Oxf)       Date:  2015-08-13       Impact factor: 3.478

7.  Cytogenetic assessment of Iranian infertile men with undescended testis: A retrospective study.

Authors:  Neda Sharifi; Marjan Sabbaghian; Faramarz Farrahi; Navid Almadani; Parnaz Borjian Boroujeni; Anahita Mohseni Meybodi
Journal:  JBRA Assist Reprod       Date:  2020-10-06
  7 in total

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