Role of Genetic Counseling for Patients with Hypospadias and Their Families

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.

Prevalence and Clustering of Congenital Heart Defects Among Boys With Hypospadias

“…35 In addition, to our knowledge, there are currently no recommended additional screenings for boys with a diagnosis of hypospadias, regardless of hypospadias severity. 36 However, it is increasingly recognized that boys with hypospadias could experience a benefit associated with clinical sequencing and genetic counseling, 19 , 37 , 38 and the American College of Medical Genomics and Genetics now recommends sequencing for children with a diagnosis of a congenital anomaly prior to 1 year of age. 39 Sequencing of individuals with multiple congenital anomalies, particularly those across body systems, has a high likelihood to yield a molecular diagnosis.…”

Current perspectives in hypospadias research: A scoping review of articles published in 2021 (Review)

“…There are only a few reviews (three) about gene complexes or syndromes that are associated with hypospadias (154)(155)(156). Genetic counseling for patients with hypospadias is mandatory, especially when hypospadias is associated with other malformations, is the conclusion of one study (157). Future studies will appear with more information and predictability and easier and more organized systems for managing genetic issues.…”