Evaluation for pathologic causes of gynecomastia suggested by the history or examination in children and adolescents

Clinical findings	Possible cause(s)	Initial targeted evaluation
Testicular pain Testicular enlargement/mass	Testicular cancer	Testicular ultrasonography
Perioral pigmentation Family history of Peutz-Jeghers syndrome	Peutz-Jeghers syndrome (increased risk of Sertoli cell tumor)	Testicular ultrasonography
Weight loss Abdominal mass	Adrenal tumor Extragonadal germ cell tumor hCG-secreting nontrophoblastic neoplasm	Adrenal imaging Chest imaging
Increased appetite Goiter Ophthalmopathy Tachycardia Tremor	Hyperthyroidism	Free thyroxine (T4), tri-iodothyronine (T3), TSH
Tall, thin body habitus Long arms and legs Small (<3 cm [1.2 inches] or <5 mL in volume), firm testes (in adolescent or adult) Learning, language, or behavioral difficulties	Klinefelter syndrome*	Karyotype
Galactorrhea	Hyperprolactinemia	Serum prolactin
Undervirilization Atypical genitalia Hypospadias Cryptorchidism Muscle fasciculations, weakness, calf hypertrophy^¶	Primary or secondary hypogonadism Partial androgen insensitivity 3 beta-hydroxysteroid dehydrogenase deficiency Ovotesticular difference of sex development	Referral to a pediatric endocrinologist is suggested; specialized testing may be necessary
Anorexia, nausea, vomiting, acholic stools Jaundice, edema, spider angiomata	Liver disease	Liver function tests
Anorexia, nausea, vomiting, edema Changes in urination, hematuria	Kidney disease	BUN/creatinine
Accelerated early linear growth Family history of gynecomastia	Aromatase excess syndrome	Molecular genetic testing*
Accelerated early linear growth Premature adrenarche or puberty Hypertension (11-beta hydroxylase deficiency)	11-beta hydroxylase deficiency Nonclassic (late-onset) 21-hydroxylase deficiency	Referral to pediatric endocrinologist is suggested; specialized testing may be necessary

hCG: human chorionic gonadotropin; TSH: thyroid stimulating hormone; BUN: blood urea nitrogen.

* Consultation with a pediatric endocrinologist or geneticist is suggested.

¶ Muscle fasciculations, weakness, and calf hypertrophy may indicate X-linked spinal and bulbar muscular atrophy, which is associated with partial androgen insensitivity. Referral to a neurologist is also suggested.

References:

Braunstein GD. Gynecomastia. N Engl J Med 1993; 328:490.
Braunstein GD. Clinical practice. Gynecomastia. N Engl J Med 2007; 357:1229.
Ma NS, Geffner ME. Gynecomastia in prepubertal and pubertal men. Curr Opin Pediatr 2008; 20:465.
Narula HS, Carlson HE. Gynaecomastia--pathophysiology, diagnosis and treatment. Nat Rev Endocrinol 2014; 10:684.

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خرید پکیج

Evaluation for pathologic causes of gynecomastia suggested by the history or examination in children and adolescents