Understanding 46,XX Ovarian Dysgenesis-Short Stature Syndrome: A Genetic Insight
Primary amenorrhea, short stature and hormonal imbalance appear despite a normal 46,XX karyotype; hormone replacement follows once testing points to the cause.
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 Testing: A Gateway to Understanding 46,XY Sex Reversal 9
Testes that never develop leave a female phenotype in a person with an XY karyotype; finding the SRY missense mutation supports early diagnosis and counseling.
ACTH-Independent Macronodular Adrenal Hyperplasia 2: Unraveling the Genetic Threads
Adrenal nodules that make cortisol without ACTH signaling drive Cushing's syndrome in AIMAH2; the page covers PDE11A variants and what genetic testing can add.
Genetic Testing for Adams-Oliver Syndrome 5 (AOS5)
Beyond scalp and limb anomalies, AOS5 can involve the cardiovascular system; identifying the ARHGAP31 variant separates it from other Adams-Oliver subtypes.
Advancements in Amelogenesis Imperfecta Type 1H: The Role of Genetic Testing
Clinical exam and family history can be inconclusive, so identifying the RELT frameshift mutation gives type 1H a definite diagnosis and shapes dental treatment.
Amyotrophic Lateral Sclerosis Type 22: Harnessing Genetic Testing for a Brighter Future
Mutations in genes such as ALS2 underlie this form of ALS. Testing can identify at-risk people before symptoms appear and steer targeted drug development.
Aortic Aneurysm, Familial Thoracic 9: Genetic Insights for Better Outcomes
Risk stratification based on the mutation found sets how closely the aorta is imaged in TAAD9 and can inform the timing and approach of surgical repair.
Decoding the Complexities: Genetic Testing for Ataxia - Intellectual Disability - Oculomotor Apraxia - Cerebellar Cysts Syndrome
Cerebellar ataxia, intellectual disability, oculomotor apraxia and cerebellar cysts appear together in AIDOA-CCS, where DNA analysis confirms a delayed diagnosis.