Expanding the Genetic Etiology of Multiple Morphological Abnormalities of the Sperm Flagella: A Case Report of Two Novel DNAH1 Variants.

Q4 Medicine South Dakota medicine : the journal of the South Dakota State Medical Association Pub Date : 2024-12-01

Emily Anderson, Megan Bell, Katherine Hornberger, Jason Flanagan, Kayleigh Avello, Fang Xu, Steffen Christensen, Ellen Johnson

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Abstract

Background: The following case report details the genetic evaluation and treatment of a 30-year-old male with a history of asthenoteratospermia and notable abnormalities of the sperm flagella.

Methods: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

Results: Genetic evaluation was performed via a multi-gene panel of genes associated with primary ciliary dyskinesia and multiple morphological abnormalities of the sperm flagella (MMAF) prior to the couple's in vitro fertilization (IVF) cycle.

Conclusions: The two novel DNAH1 variants add to the growing body of evidence of the relationship between DNAH1 and multiple morphological abnormalities of the sperm flagella. DNAH1 variants and abnormal sperm morphology appear to negatively impact embryo development. Genetic counseling can aid in genetic testing and counseling related to male infertility.