Differential Diagnosis for Gynecomastia
Single Most Likely Diagnosis
- Physiologic gynecomastia: This is the most common cause of gynecomastia, particularly in neonates, adolescents, and older adults. It occurs due to the imbalance of estrogen and testosterone levels during these life stages.
Other Likely Diagnoses
- Medication-induced gynecomastia: Certain medications such as spironolactone, cimetidine, and anabolic steroids can cause gynecomastia as a side effect. This diagnosis is likely in patients taking these medications.
- Hypogonadism: Conditions that lead to low testosterone levels, such as Klinefelter syndrome or pituitary gland disorders, can cause gynecomastia.
- Thyroid disorders: Hyperthyroidism can lead to an increase in estrogen levels, causing gynecomastia.
- Liver disease: Liver cirrhosis can lead to an imbalance of sex hormones, resulting in gynecomastia.
Do Not Miss Diagnoses
- Testicular cancer: Although rare, testicular cancer can produce human chorionic gonadotropin (hCG), which stimulates estrogen production, leading to gynecomastia. Missing this diagnosis can be fatal.
- Adrenal tumors: Tumors of the adrenal gland can produce excess estrogen, causing gynecomastia. Early detection is crucial for treatment and survival.
- Pituitary tumors: Certain pituitary tumors can secrete prolactin, leading to an imbalance of sex hormones and gynecomastia.
Rare Diagnoses
- Klinefelter syndrome variants: Rare genetic disorders that affect sex chromosome development, such as XXY/XY mosaicism, can cause gynecomastia.
- Aromatase excess syndrome: A rare genetic disorder that leads to an overproduction of estrogen, causing gynecomastia.
- Familial gynecomastia: A rare inherited condition that causes gynecomastia due to genetic mutations affecting sex hormone production or function.