Hypogonadotropic Hypogonadism 15: KAL1, FGFR1, SOX10
When the hypothalamus makes too little GnRH, puberty stalls; this form has been tied to KAL1, FGFR1 and SOX10, with one reported reversal.
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
Decoding Hypogonadotropic Hypogonadism: Genetic Testing's Role in Diagnosis
Self-limited delayed puberty can look much like congenital hypogonadotropic hypogonadism; an FGFR1 or FGF8 mutation separates the two.
Harnessing the Power of Genetic Testing in Hypogonadotropic Hypogonadism 8 with or without Anosmia
Precise identification of FGFR1 mutations confirms HH8, separates it from similar disorders and shapes hormone replacement choices and monitoring over time.
Harnessing Genetic Testing for Hypogonadotropic Hypogonadism 9 with or without Anosmia
Gonadotropin production falters when FGFR1 is altered, delaying puberty and affecting fertility. Diagnosis, hormone care and counseling are described.
Illuminating Immunodeficiency 23: The Role of Genetic Testing in Understanding and Managing the Condition
Mutations in TNFRSF13B disrupt B-cell development and antibody production; testing confirms IMD23, guides treatment and informs decisions about family planning.
Immunodeficiency 28: Symptoms, Testing and Counseling
Weakened immune defenses leave people with IMD28 prone to infection; pinpointing the causative mutation supports earlier diagnosis, tailored therapy and carrier testing.
Immunoglobulin-Mediated Membranoproliferative Glomerulonephritis: Genetic Testing as a Beacon of Hope
Abnormal immunoglobulins form complexes that settle in the glomeruli, causing inflammation and scarring; genetic analysis can flag predisposition to Ig-MPGN.
Illuminating Intellectual Disability: Autosomal Recessive 42 with Genetic Testing
Different mutations can produce similar symptoms in IDAR42, so clinical assessment alone may fall short. DNA testing pinpoints the mutation behind the diagnosis.