Splenogonadal fusion-limb deformity syndrome: a rare but important cause of undescended testis

World J Pediatr. 2016 May;12(2):246-8. doi: 10.1007/s12519-015-0046-y. Epub 2015 Nov 19.

Abstract

Background: Splenogonadal fusion is a rare congenital anomaly which is characterized by fusion formation between the spleen and gonad.

Methods: We report a case of a 14-month boy with spleongonadal fusion-limb deformity syndrome focusing on the importance of awareness of this syndrome.

Results: The patient was admitted to our clinic because of a left undescended testis, and preoperative diagnosis was not made. During the operation, "spleen-like" tissue attached to the gonad induced splenogonadal fusion, which was confirmed by laparoscopy. The patient also had a short right femur, hip dysplasia and a syndromic face.

Conclusion: Splenogonadal fusion anomaly should be considered in the evaluation of undescended testis, especially in patients with facial and limb deformities.

Keywords: diagnostic laparoscopy; splenogonadal fusion; undescended testis.

Publication types

  • Case Reports

MeSH terms

  • Craniofacial Abnormalities / complications*
  • Cryptorchidism / etiology*
  • Gonads / abnormalities*
  • Humans
  • Infant
  • Limb Deformities, Congenital / complications*
  • Male
  • Spleen / abnormalities*

Supplementary concepts

  • Splenogonadal fusion limb defects micrognatia