There are several causes to consider when evaluating a male with macroorchidism (enlarged testis or testes).
Synonym: megalotestis
Questions to be answered:
(1) unilateral or bilateral enlargement
(2) diffuse or focal enlargement
(3) family history
(4) age at onset, especially in relation to puberty
(5) other clinical findings
(6) serum levels of estrogen, FSH, inhibin testosterone and other hormones
Conditions associated with an enlarged testis:
(1) fragile X syndrome
(2) 47 XYY syndrome
(3) pituitary adenoma secreting follicle stimulating hormone (FSH) with or without panhypopituitarism
(4) benign testicular cyst or tumor (usually unilateral)
(5) malignant testicular tumor (usually unilateral)
(6) congenital adrenal hyperplasia (associated with adrenal remnants)
(7) hypothyroidism (autoimmune thyroiditis may be associated with interstitial fibrosis)
(8) aromatase deficiency (with estrogen deficiency)
(9) Sertoli cell hyperplasia (possibly as a defect in FSH receptor)
(10) McCune-Albright syndrome (43.70.01)
(11) Allan-Herndon syndrome
(12) trisomy 20p
If no cause is identified then it is considered:
(1) idiopathic
(2) normal size variation (relative to a Gaussian distribution)
Specialty: Urology
ICD-10: ,