Splenogonadal fusion

Splenogonadal fusion
Intra-operative gross photograph of the spleen attached to the left testis in a 1-year old boy with splenogonadal fusion

Splenogonadal fusion is a rare congenital malformation that results from an abnormal connection between the primitive spleen and gonad during gestation. A portion of the splenic tissue then descends with the gonad. Splenogonadal fusion has been classified into two types: continuous, where there remains a connection between the main spleen and gonad; and discontinuous, where ectopic splenic tissue is attached to the gonad, but there is no connection to the orthotopic spleen. Patients can also have an accessory spleen. Patients with continuous splenogonadal fusion frequently have additional congenital abnormalities including limb defects, micrognathia, skull anomalies, Spina bifida, cardiac defects, anorectal abnormalities, and most commonly cryptorchidism.[1] Terminal limb defects have been documented in at least 25 cases which makes up a separate diagnosis of splenogonadal fusion limb defect (SGFLD) syndrome.

The anomaly was first described in 1883 by Bostroem.[2] Since then more than 150 cases of splenogonadal fusion have been documented, predominantly in males.[3] The condition is considered benign.[4] A few cases of testicular neoplasm have been reported in association with splenogonadal fusion.[5][6] The reported cases have occurred in patients with a history of cryptorchidism, which is associated with an elevated risk of neoplasm.[6]

Splenogonadal fusion occurs with a male-to-female ratio of 16:1, and is seen nearly exclusively on the left side.[3] The condition remains a diagnostic challenge, but preoperative consideration of the diagnosis and use of ultrasound may help avoid unnecessary orchiectomy. The presence of splenic tissue may be confirmed with a technetium-99m sulfur colloid scan.[7]

  1. ^ Kocher, NJ; Tomaszewski, JJ; Parsons, RB; Cronson, BR; Altman, H; Kutikov, A (Jan 2014). "Splenogonadal fusion: a rare etiology of solid testicular mass". Urology. 83 (1): e1-2. doi:10.1016/j.urology.2013.09.019. PMID 24200197.
  2. ^ Khairat, AB; Ismail, AM (Aug 2005). "Splenogonadal fusion: case presentation and literature review". Journal of Pediatric Surgery. 40 (8): 1357–60. doi:10.1016/j.jpedsurg.2005.05.027. PMID 16080949.
  3. ^ a b Varma, DR; Sirineni, GR; Rao, MV; Pottala, KM; Mallipudi, BV (Sep 2007). "Sonographic and CT features of splenogonadal fusion". Pediatric Radiology. 37 (9): 916–9. doi:10.1007/s00247-007-0526-x. PMID 17581747. S2CID 27596524.
  4. ^ Lin, CS; Lazarowicz, JL; Allan, RW; Maclennan, GT (Jul 2010). "Splenogonadal fusion". The Journal of Urology. 184 (1): 332–3. doi:10.1016/j.juro.2010.04.013. PMID 20488470.
  5. ^ Imperial, SL; Sidhu, JS (Oct 2002). "Nonseminomatous germ cell tumor arising in splenogonadal fusion". Archives of Pathology & Laboratory Medicine. 126 (10): 1222–5. doi:10.5858/2002-126-1222-NGCTAI. PMID 12296764.
  6. ^ a b Lopes RI, de Medeiros MT, Arap MA, Cocuzza M, Srougi M, Hallak J (Jan–Mar 2012). "Splenogonadal fusion and testicular cancer: case report and review of the literature". Einstein (Sao Paulo, Brazil). 10 (1): 92–5. doi:10.1590/s1679-45082012000100019. PMID 23045834.
  7. ^ Guarin, U; Dimitrieva, Z; Ashley, SJ (Oct 1975). "Splenogonadal fusion-a rare congenital anomaly demonstrated by 99Tc-sulfur colloid imaging: case report". Journal of Nuclear Medicine. 16 (10): 922–4. PMID 240914.