Disorders of Sex Development

Overview

• Disorders of Sex Development (DSD), formerly termed intersex conditions, occur when there is a discrepancy between the appearance of the genitalia and the genetic makeup of an individual.

• These disorders can present from birth to adolescence. DSD can be mild or significant depending on the appearance of the genitalia and associated symptoms. DSD can be caused by changes at a chromosomal level and gene level thus the inheritance pattern of DSDs can be dominant, recessive or sex-linked. Additionally, DSDs can occur due to de novo changes in the DNA (for the first time in the affected individual). 

• The Igenomix Disorders of Sex Development Precision Panel can be used to make a directed and accurate differential diagnosis of ambiguous genitalia ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.  

Indication

The Igenomix Disorders of Sex Development Precision Panel is indicated for those patients with clinical suspicion of an intersex condition presenting with the following manifestations: 

• Family history of genital ambiguity  
• History of early death of infants 
• Maternal drug ingestion 
• Ambiguous genitalia  
• Abnormal size and degree of differentiation of phallus  
• Abnormal position of urethral meatus  
• Separated labioscrotal folds  
• Labioscrotal folds with increased pigmentation  

Clinical Utility

The clinical utility of this panel is: 

• The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.  
• Early initiation of treatment with a multidisciplinary team for early surgical reconstruction, psychosocial aids and pharmacologic treatment. 
• Risk assessment of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases