[Macroorchidism: a case report].
Macroorchidism is a rare condition in children and is usually associated with fragile X syndrome. Other possible etiologies of macroorchidism are long-standing primary hypothyroidism, adrenal remnants in congenital adrenal hyperplasia, follicle stimulating hormone (FSH)-secreting pituitary macroadenomas, local tumors, lymphomas, and aromatase deficiency. Bilateral macroorchidism can be a normal variant in adult men. We report the case of an 11.5-year-old boy who was referred to our hospital for evaluation of marked bilateral testicular enlargement in the previous few months. Physical examination revealed a testicular volume larger than 30 ml. Complementary investigations allowed us to rule out all hitherto reported etiologies of bilateral macroorchidism and therefore a diagnosis of idiopathic macroorchidism was established. The increased number of Sertoli cells found on biopsy, without elevated plasma FSH levels, prompted us to speculate about a hypothetical FSH receptor hyperfunction as a possible cause of the exaggerated testicular enlargement in this patient.
Alvarez-Acevedo García
M
M
Servicio de Endocrinología Pediátrica, Hospital Infantil La Paz, Madrid, Spain. malvaracevedo@yahoo.es
Molina Rodríguez
María A
MA
González Casado
I
I
Nistal Martín de Serrano
M
M
Gracia Bouthelier
R
R
D002648:Child; D006801:Humans; D008297:Male; D011962:Receptors, FSH; D012708:Sertoli Cells; D013733:Testicular Diseases / Q000378:metabolism / Q000473:pathology*
D011962:Receptors, FSH