Prioritizing Genetic Testing in Patients With Kallmann Syndrome Using Clinical Phenotypes

The complexity of genetic testing in Kallmann syndrome (KS) is growing and costly. Thus, it is important to leverage the clinical evaluations of KS patients to prioritize genetic screening.The objective of the study was to determine which reproductive and nonreproductive phenotypes of KS subjects have implications for specific gene mutations.Two hundred nineteen KS patients were studied: 151 with identified rare sequence variants (RSVs) in 8...