
Genetic Insights: Decoding Peripheral Precocious Puberty
Early sexual development bypasses the hypothalamic-pituitary-gonadal axis and can stem from tumors, adrenal disorders or GNAS mutations in McCune-Albright syndrome.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
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).
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.

Early sexual development bypasses the hypothalamic-pituitary-gonadal axis and can stem from tumors, adrenal disorders or GNAS mutations in McCune-Albright syndrome.

Photosensitivity, fragile skin and blistering follow a shortage of uroporphyrinogen decarboxylase, and UROD testing shows whether PCT is hereditary or acquired.

Too little cortisol, and sometimes aldosterone, brings fatigue, weight loss and adrenal crises in Addison's disease; genetic causes such as CYP21A2 are examined.

Vague symptoms such as abdominal pain and bloating often delay diagnosis of PPC; BRCA1 and BRCA2 testing can flag inherited risk and point to targeted treatment.

Impaired bile flow damages the liver from infancy, with jaundice, itching and poor weight gain; DNA testing separates PFIC1, PFIC2 and PFIC3 and guides care.

High pressure in the lung arteries causes breathlessness, fatigue, chest pain and swollen ankles, and BMPR2 is the gene most often implicated in heritable cases.

SGCA mutations weaken the sarcoglycan complex that holds muscle cell membranes together, causing limb-girdle weakness around the hips and shoulders.

Hypertrophic and dilated cardiomyopathy can both trace to the beta-myosin heavy chain gene, and MYH7 results inform surveillance, drug choice and reproductive options.