Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with...

Area of Science:

• Pediatric Genetics
• Developmental Biology
• Clinical Dysmorphology

Background:

• Hypospadias is a common congenital condition affecting the male genitalia.
• Neurodevelopmental delay can be associated with various congenital anomalies.
• The co-occurrence of hypospadias, neurodevelopmental delay, and other malformations requires further investigation.

Purpose of the Study:

• To investigate common patterns of malformations in boys with hypospadias and neurodevelopmental delay.
• To compare associated phenotypes between boys with hypospadias and those with other genital abnormalities.
• To identify potential links between hypospadias and specific systemic abnormalities.

Main Methods:

• Retrospective review of participants from the Deciphering Developmental Disorders Study.
• Inclusion criteria: neurodevelopmental delay and genital system abnormality.
• Subgroup analysis comparing participants with and without hypospadias.

Main Results:

• Among 166 participants with hypospadias and neurodevelopmental delay, 28% had cardiovascular and 24% had structural brain abnormalities.
• Cardiovascular abnormalities were less frequent (19%) in those with neurodevelopmental delay and genital abnormalities other than hypospadias.
• Structural brain malformations were significantly higher (24%) in the hypospadias group compared to the non-hypospadias group (15%).

Conclusions:

• This study is the first to report frequent cardiovascular and brain abnormalities in children with hypospadias and neurodevelopmental disorders.
• These findings suggest a potential shared etiology and highlight the multisystem nature of conditions involving hypospadias.
• The results underscore the importance of comprehensive phenotyping in children diagnosed with hypospadias and neurodevelopmental delay.