Cystic Fibrosis Manifested as Undescended Testis and Absence of Vas Deferens

¹ Dept. of OB/Gyn, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel
² Dept of Pediatrics, Cystic Fibrosis Clinic, Shaare Zedek Medical Center, Hadassah Medical School, Hebrew University, Jerusalem
³ Dept of Genetics, Institute of Life Sciences, Hebrew University, Jerusalem
⁴ Dept of Pediatric Surgery, Hadassah University Hospital, Mount Scopus, Jerusalem
⁵ Dept of Pediatrics, Chaim Sheba Medical Center, Sackler Medical School, Tel-Aviv University, Tel-Aviv

Cystic fibrosis (CF) is the most common autosomal recessive inherited disease in whites. Among whites of European ancestry, approximately 1 in 2000 live births are affected, implying a carrier frequency of 1:25.¹ The disease is characterized by chronic lung disease, which usually leads to the patient's death. Furthermore, patients with CF suffer from pancreatic insufficiency and other less common manifestations, such as meconium ileus, hepatobiliary abnormalities, diabetes mellitus, and musculoskeletal problems.¹ Almost all males with CF are infertile. Absence of the vas deferens has been reported in 70% to more than 90% of male patients affected by CF.²

Although 4% of full-term male neonates have un-descended testes at birth, 0.8% to 1.0% of 1-year-old boys have cryptorchism and may be subjected to a later surgical intervention.³

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