Global InformationMacroorchidism information
| Macroorchidism | |
|---|---|
| Specialty | Urology |
Macroorchidism is a disorder found in males, specifically in children, where a subject has abnormally large testes. The condition is commonly inherited in connection with fragile X syndrome (FXS), which is also the second most common genetic cause of intellectual disability.[1] The condition is also a rare sign of the McCune-Albright syndrome.[2] The opposite of macroorchidism is called microorchidism, which is the condition of abnormally small testes.
Macroorchidism is related to IGFS1 deficiency which causes an increase in the secretion of follicle stimulating hormone (FSH). There are other causes for macroorchidism such as hypothyroidism, local tumors, and aromatase deficiency.[3] Macroorchidism can be diagnosed by measuring the testicular volume using a prader orchidometer.[4] There is no cure for macroorchidism, however, medications are currently being tested and used to control the disorder to promote quality living.[5]
- ^ Lozano, Reymundo; Summers, Scott; Lozano, Cristina; Mu, Yi; Hessl, David; Nguyen, Danh; Tassone, Flora; Hagerman, Randi (September 2014). "Association between macroorchidism and intelligence in FMR1 premutation carriers". American Journal of Medical Genetics Part A. 164 (9): 2206–2211. doi:10.1002/ajmg.a.36624. PMC 4332881. PMID 24903624.
- ^ Styne, Dennis M. (2019). "Physiology and Disorders of Puberty". Williams Textbook of Endocrinology. 26: 1023–1164.e25.
- ^ Cite error: The named reference
:5was invoked but never defined (see the help page). - ^ De Sanctis, Vincenzo; Marsella, Maria; Soliman, Ashraf; Yassin, Mohamed (February 2014). "Macroorchidism in childhood and adolescence: an update". Pediatric Endocrinology Reviews: PER. 11 (Suppl 2): 263–273. ISSN 1565-4753. PMID 24683950.
- ^ Jones, Kenneth Lyons (June 18, 2021). Smith's Recognizable Patterns of Human Malformation (8th ed.). Elsevier. pp. 198–225. ISBN 978-0323638821.