Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.

Background: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic.

Methods: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes.

[Nephroblastoma and Wilms tumor: report of 2 cases].

Nephroblastomatosis is a rare disease, considered to be a precursor of Wilms tumour. When it is isolated, recommended treatment consists of chemotherapy followed by surveillance. In the presence of associated Wilms tumour, treatment consists of preoperative chemotherapy followed by partial nephrectomy (when possible), followed by postoperative chemotherapy and surveillance.

[Transverse ectopic testis].

Transverse ectopic testis (TET) is a rare form of ectopic testis. The authors report the case of a 2-month-old infant presenting with right inguinoscrotal hernia and ectopic left testis with an impalpable testis. Opening of the hernia sac revealed two testes with two distally fused vasa deferentes.