Kallmann Syndrome Precision Panel

Overview

• Kallmann Syndrome (KS) is a rare genetic disorder that belongs to the spectrum of isolated hypogonadotropic hypogonadism. This decrease in gonadal function is due to a failure in differentiation or migration of neurons that embryologically arise in the olfactory mucosa and travel to the hypothalamus. Thus, a particular feature of Kallman Syndrome is the presence of either anosmia (lack of sense of smell) or severe hyposmia. Some non-reproductive, non-olfactory symptoms can also be present, depending on the genetic form of disease which include cranial anomalies, missing teeth, optic problems and/or congenital heart disease. Inability to attain puberty or failure to fully complete it is one of the main forms of presentation and an early interventional replacement therapy could prevent further complications derived from a delay in treatment. It is inherited typically in an autosomal dominant fashion.  
• The Igenomix Kallmann Syndrome Precision Panel can be used to make a directed and accurate diagnosis as well as a differential diagnosis of hypogonadotropic hypogonadism 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 Kallmann Syndrome Precision Panel is indicated for those patients with a clinical diagnosis or suspicion with or without the following manifestations: 
  • Amenorrhea 
  • Dyspareunia  
  • Infertility 
  • Decreased muscle strength and diminished aggressiveness and drive in men 
  • Osteoporosis  
  • Anosmia or hyposmia (decreased or absent sense of smell) 
  • Fatigue 
  • Difficulty breathing 
  • Palpitations  
  • Syncope 
  • Color blindness 
  • Epilepsy
  • Deafness 
  • Paraplegia  
  • Skeletal abnormalities 

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 gonadal steroid replacement therapy, assisted reproduction technology (ARTs), psychological counselling and surveillance and prevention of complications such as osteoporosis, adrenocortical insufficiency and neurologic disorders.  
• Early planification of surgical care for congenital heart disease and cleft lip or palate.
• Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance. 

Genes & Diseases