Genetic defects in human azoospermia
نویسندگان
چکیده
منابع مشابه
A comprehensive review of genetics and genetic testing in azoospermia
Azoospermia due to obstructive and non-obstructive mechanisms is a common manifestation of male infertility accounting for 10-15% of such cases. Known genetic factors are responsible for approximately 1/3 of cases of azoospermia. Nonetheless, at least 40% of cases are currently categorized as idiopathic and may be linked to unknown genetic abnormalities. It is recommended that various genetic s...
متن کاملGenetic Risk of Azoospermia Factor (AZF) Microdeletions in Idiopathic Cases of Azoospermia and Oligozoospermia in Central Indian Population.
BACKGROUND Genetic factors cause about 15% of male infertility. Azoospermia factors (AZFa, AZFb, and AZFc) present on Yq are most important for spermatogenesis. We have made an attempt to evaluate the frequencies of microdeletions of AZFa, AZFb, AZFc in idiopathic cases of azoospermia and oligozoospermia from central Indian population. MATERIALS AND METHODS We have analyzed a total of 156 sub...
متن کاملBiochemical and genetic defects underlying human congenital hypotransferrinemia.
INTRODUCTION Human congenital hypotransferrinemia is a rare disorder characterized by the virtual absence of transferrin in the serum. No information on the causes of the disease is known. MATERIALS AND METHODS Here we describe the identification of a new case, its treatment and the biochemical and genetic defects underlying the disorder. RESULTS At diagnosis the patient had serum Tf levels...
متن کاملSPINK2 deficiency causes infertility by inducing sperm defects in heterozygotes and azoospermia in homozygotes
Azoospermia, characterized by the absence of spermatozoa in the ejaculate, is a common cause of male infertility with a poorly characterized etiology. Exome sequencing analysis of two azoospermic brothers allowed the identification of a homozygous splice mutation in SPINK2, encoding a serine protease inhibitor believed to target acrosin, the main sperm acrosomal protease. In accord with these f...
متن کاملGenetic sperm defects.
Genetic sperm defects are specific sperm defects, which have been shown to have a genetic mode of transmission. Such genetic linkage, either direct or indirect, has been associated with a number of sperm defects in different species, with this number increasing with improved diagnostic capabilities. A number of sperm defects, which have proven or suspected genetic modes of transmission are disc...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Basic and Clinical Andrology
سال: 2019
ISSN: 2051-4190
DOI: 10.1186/s12610-019-0086-6