South Dakota medicine : the journal of the South Dakota State Medical Association · 2024
Expanding the Genetic Etiology of Multiple Morphological Abnormalities of the Sperm Flagella: A Case Report of Two Novel DNAH1 Variants.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Anderson Emily, Bell Megan, Hornberger Katherine, Flanagan Jason, Avello Kayleigh, Xu Fang, Christensen Steffen, Johnson Ellen
Аннотация
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.
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.