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Journal of Endocrinological Investigation

, Volume 35, Issue 1, pp 5–7 | Cite as

Expression of STRBP mRNA in patients with cryptorchidism and Down’s syndrome

  • M. Salemi
  • S. La Vignera
  • R. Castiglione
  • R. A. Condorelli
  • L. Cimino
  • P. Bosco
  • C. Romano
  • C. Romano
  • A. E. CalogeroEmail author
Rapid Communication

Abstract

The most frequent defect of the male urogenital tract at birth is cryptorchidism. Cryptorchidism causes primitive testicular pathology responsible for infertility. Men with Down’s syndrome (DS) have an increased risk of cryptorchidism. The spermatid perinuclear RNA-binding protein (STRBP) gene codifies a microtubule-associated RNA-binding protein and it is highly expressed in the testis as well as in the brain. At both levels, this gene seems to play a relevant role in the regular development of these organs. These observations prompted us to evaluate the expression of STRBP mRNA in 5 DS men with cryptorchidism and 5 normal healthy men (controls) by quantitative Real Time PCR in peripheral blood leukocytes. We found a decreased expression of the STRBP gene in men with DS and cryptorchidism compared with controls. This finding suggests that the impaired expression of this gene in DS may play a pathogenetic role in the altered brain and testicular development in subjects with DS and cryptorchidism.

Key-words

Cryptorchidism Down’s syndrome expression qRT-PCR reproductive genetics STRBP gene 

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Copyright information

© Italian Society of Endocrinology (SIE) 2012

Authors and Affiliations

  • M. Salemi
    • 1
  • S. La Vignera
    • 2
  • R. Castiglione
    • 2
  • R. A. Condorelli
    • 2
  • L. Cimino
    • 2
  • P. Bosco
    • 1
  • C. Romano
    • 1
  • C. Romano
    • 3
  • A. E. Calogero
    • 2
    Email author
  1. 1.Laboratory of CytogeneticsOasi Institute for Research on Mental Retardation and Brain AgingTroinaItaly
  2. 2.Section of Endocrinology, Andrology and Internal Medicine, Department of Internal Medicine and Systemic Diseases, and Master in Andrological and Human Reproduction SciencesUniversity of CataniaCataniaItaly
  3. 3.Unit of Pediatrics and Medical GeneticsOasi Institute for Research on Mental Retardation and Brain AgingTroinaItaly

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