OBJECTIVE: To report the familial occurrence of severe oligoasthenoteratozoospermia in a man and five male relatives related through their mothers. DESIGN: Case report. SETTING: University medical center. PATIENT(S): Six affected family members. MAIN OUTCOME MEASURE(S): Blood and semen samples were collected from all affected males and some of their healthy male relatives. Pedigree analysis and exclusion of X-linked disorder were done. RESULT(S): Analysis suggested that familial nonsyndromic male factor infertility was present. CONCLUSION(S): The family described in this report suggests the existence of an autosomal dominant trait of male infertility with sex-limited expression.
OBJECTIVE: To report the familial occurrence of severe oligoasthenoteratozoospermia in a man and five male relatives related through their mothers. DESIGN: Case report. SETTING: University medical center. PATIENT(S): Six affected family members. MAIN OUTCOME MEASURE(S): Blood and semen samples were collected from all affected males and some of their healthy male relatives. Pedigree analysis and exclusion of X-linked disorder were done. RESULT(S): Analysis suggested that familial nonsyndromic male factor infertility was present. CONCLUSION(S): The family described in this report suggests the existence of an autosomal dominant trait of male infertility with sex-limited expression.
Authors: Anu Bashamboo; Bruno Ferraz-de-Souza; Diana Lourenço; Lin Lin; Neil J Sebire; Debbie Montjean; Joelle Bignon-Topalovic; Jacqueline Mandelbaum; Jean-Pierre Siffroi; Sophie Christin-Maitre; Uppala Radhakrishna; Hassan Rouba; Celia Ravel; Jacob Seeler; John C Achermann; Ken McElreavey Journal: Am J Hum Genet Date: 2010-10-08 Impact factor: 11.025