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Eur J Pediatr Surg 2021; 31(06): 492-496
DOI: 10.1055/s-0041-1740339
Review Article

Role of Genetic Counseling for Patients with Hypospadias and Their Families

Agneta Nordenskjöld
1   Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
2   Department of Pediatric Surgery, Karolinska University Hospital, Astrid Lindgren Children Hospital, Stockholm, Sweden
,
Gundela Holmdahl
1   Department of Women's and Children's Health and Center for Molecular Medicine, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden
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Abstract

Congenital malformations often have a genetic background associated with a recurrence risk and may be part of a syndrome. Therefore, for children with a congenital malformation, the parents should be offered genetic counseling, and the child should also be offered the same when they reach adulthood. Hypospadias is a common malformation in boys that arises during genital development in weeks 8 to 16. This results in an underdevelopment of the ventral aspect of the penis with a misplacement of the urethral opening somewhere along the penis, scrotum, or in the perineum and with different degrees of penile curvature. The cause can be monogenic, but generally it is regarded as a complex disorder caused by both genetic and environmental factors. Severe hypospadias and familial cases should be genetically investigated, as for other forms of disorders of sex development, according to current guidelines with sequencing of relevant genes. Hypospadias associated with another independent malformation may be part of a syndrome and should be investigated. Fortunately, boys born with milder hypospadias generally have a good outcome and thus the clinical value of finding a disease-causing mutation appears to be limited especially in light of the present cost of genetic analysis. However, all men born with hypospadias should be advised on the recurrence risk and risk for reduced fertility.

Keywords

hypospadias - genetic counseling - inheritance - recurrence risk - outcome


Publikationsverlauf

Eingereicht: 03. November 2021

Angenommen: 08. November 2021

Artikel online veröffentlicht:
15. Dezember 2021

© 2021. Thieme. All rights reserved.

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