Decoding the Enigma: Understanding Hypogonadotropic Hypogonadism 22 with Anosmia
KAL1, FGFR1, PROKR2, PROK2 and SPRY4 have been tied to congenital hypogonadotropic hypogonadism, alongside the benefits and the limits of testing for HH22.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Genetic Causes of Hypogonadotropic Hypogonadism 3 (IHH)
Copy number variants account for roughly 2% of isolated cases, while SOX10 deletion and novel FGFR1 mutations add further causes that testing can pin down.
How Hypogonadotropic Hypogonadism 8 Differs from Other IHH
Unlike most idiopathic hypogonadotropic hypogonadism, this subtype leaves the sense of smell intact. GnRH deficiency and diagnosis are covered.
Impaired Temperature Sensation: Causes and Gene Tests
Often a feature of congenital sensory and autonomic neuropathies, reduced temperature sensing can lead to burns or frostbite; exome sequencing has found causes.
Inflammatory Bowel Disease 14: HLA Risk and Testing
Variations in the HLA region of chromosome 6 raise the chance of developing IBD, especially Crohn's disease, though a positive result means risk, not a diagnosis.
Inflammatory Bowel Disease 17: IL17RA and IL17RC Testing
Rare and genetically determined, IBD17 involves mutations in IL17RA and IL17RC that next-generation sequencing or targeted gene panels can identify to steer treatment.
Decoding Digenic Insulin Resistance: Understanding, Diagnosing, and Utilizing Genetic Testing
Discover the role of genetic testing in diagnosing severe digenic insulin resistance, guiding personalized treatment plans, and assessing family risk for this rare condition.
Unlocking the Mysteries of Iron Accumulation in the Brain: Understanding, Diagnosing, and Using Genetic Testing
Discover the role of genetic testing in diagnosing and managing Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, guiding treatment, and providing genetic…