Possible relationship between infertility and alkaptonuria

Abstract

Alkaptonuria is a rare metabolic disease which is not known to cause infertility up to now. Reported manifestations are mainly darkening of urine, ochronotic pigmentation of skin and various musculoskeletal symptoms. We aimed to report a family having many members affected with alkaptonuria and infertility. For the couple first we met from this family, after diagnosis of alkaptonuria, noticed them to have infertility. Infertility test including hysterosalpingography and sperm analysis are performed. After detailed investigation we noticed coexistence of infertility and alkaptonuria in three of eight couples. All three couples have desired to have children and asked medical help in the past. Hereby, presentation of close relation between alkaptonuria and infertility was pointed out.