Transverse testicular ectopia with abnormal karyotype - a case report
Harasymczuk, J.; Kaminiarczyk-Pyzalka, D.; Krawczynski, M.; Niedziela, M.; Wasko, R.; Czarnywojtek, A.; Jankowski, A.
Neuro Endocrinology Letters 32(4): 408-410
2011
ISSN/ISBN: 0172-780X PMID: 21876487 Document Number: 655521
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. 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. Endocrine test showed low testosterone levels with adequate gonadal response. Laparoscopy was performed and revealed the presence of TTE. 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.