title: Transverse testicular ectopia with abnormal karyotype - a case report.
abstract: OBJECTIVE
  Growth disturbances and developmental malformations of external genitalia, such as hypospadias, bifid scrotum and micropenis, coexisting with non-palpable testes, may develop as a result of primary endocrinological dysfunctions as well as an effect secondary to chromosomal aberrations. Therefore, patients with these symptoms require specific diagnostic and therapeutic approaches.
  
  
  METHODS
  We present an example of TTE as a presentation of karyotype abnormalities. Clinical presentation - 9.5 year old boy presented with hypospadias, bilateral cryptorchidism and right inguinal hernia and short stature.
  
  
  RESULTS
  Endocrine test showed low testosterone levels with adequate gonadal response. Laparoscopy was performed and revealed the presence of TTE.
  
  
  CONCLUSIONS
  The presence of mosaic karyotype with abnormal Y chromosome does not exclude a possibility of testis migration disorders, including TTE, caused by other (possibly genetic) factors. Laparoscopy is a technique of choice for diagnosis and treatment in cases of cryptorchidism.
authors.affiliation: Department of Pediatric Surgery, University of Medical Sciences, Poznan, Poland. harasymczuk@o2.pl
authors.forename: Jerzy
authors.initials: J
authors.lastname: Harasymczuk
authors.forename: Dominika
authors.initials: D
authors.lastname: Kaminiarczyk-Pyzalka
authors.forename: Maciej
authors.initials: M
authors.lastname: Krawczynski
authors.forename: Marek
authors.initials: M
authors.lastname: Niedziela
authors.forename: Ryszard
authors.initials: R
authors.lastname: Wasko
authors.forename: Agata
authors.initials: A
authors.lastname: Czarnywojtek
authors.forename: Andrzej
authors.initials: A
authors.lastname: Jankowski
mesh_terms: D002648:Child; D002828:Choristoma / Q000235:genetics*; D002869:Chromosome Aberrations; D041322:Chromosomes, Human, Y; D003456:Cryptorchidism / Q000235:genetics*; D006552:Hernia, Inguinal / Q000235:genetics*; D006801:Humans; D007021:Hypospadias / Q000235:genetics*; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations