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Infertility is a widespread clinical problem affecting 8-12% of couples worldwide. Of these, about 30% are diagnosed with idiopathic infertility since no causative factor is found. Overall 40-50% of cases are due to male reproductive defects. Numerical or structural chromosome abnormalities have long been associated with male infertility. Monogenic mutations have only recently been addressed in the pathogenesis of this condition. Mutations of specific genes involved in meiosis, mitosis or spermiohistogenesis result in spermatogenic failure, leading to the following anomalies: insufficient (oligozoospermia) or no (azoospermia) sperm production, limited progressive and/or total sperm motility (asthenozoospermia), altered sperm morphology (teratozoospermia), or combinations thereof. Androgen insensitivity, causing hormonal and sexual impairment in males with normal karyotype, also affects male fertility. The genetic causes of non-syndromic monogenic of male infertility are summarized in this article and a gene panel is proposed.
This article was published in the following journal.
Name: Acta bio-medica : Atenei Parmensis
Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility lacking any obvious cause). In 2010, the ...
Male infertility is a condition that affects approximately 50% of infertile couples and about 30% of those couples have only male factor infertility identified. There has been speculation that male mi...
Male infertility is a major health issue worldwide. Y chromosome microdeletions are well-characterized genetic causes of male infertility. The association of partial AZFc deletions (gr/gr, b2/b3, and ...
Male infertility is a multifactorial disease resulting from the interaction between the genetic and environmental factors. Spermatogenic failure accounts for more than half of male infertility cases. ...
The routine genetic analysis for diagnosing male infertility has not changed over the last twenty years, and currently available tests can only determine the etiology of 4% of unselected infertile pat...
- Infertility is defined as the inability of a sexually active couple to conceive after 1 year of regular intercourse without contraception, affects approximately 15% of couples...
The purpose of this study is to determine whether the administration of the dietary supplement Spermotrend improves spermatogenesis parameters in subjects with male infertility unrelated t...
The purpose of this study is to understand the experience of men and their partners when diagnosed with male-factor infertility while trying to achieve a pregnancy and the skills they use ...
The use of Intracytoplasmic sperm injection (ICSI) has increased in the last decades regardless of the cause of infertility. Despite the increased use there is no clear evidence that ICIS ...
Multidisciplinary, multicentric, cross-sectional study on men in infertile couples who conduct their sperm test through their diagnosis of infertility
The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility.
An assisted fertilization technique consisting of the microinjection of a single viable sperm into an extracted ovum. It is used principally to overcome low sperm count, low sperm motility, inability of sperm to penetrate the egg, or other conditions related to male infertility (INFERTILITY, MALE).
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
A scientific or medical discipline concerning the study of male reproductive biology, diseases of the male genital organs, and male infertility. Major areas of interest include ENDOCRINOLOGY; SPERMATOGENESIS; semen analysis; FERTILIZATION; CONTRACEPTION; and CRYOPRESERVATION.
Inability to reproduce after a specified period of unprotected intercourse. Reproductive sterility is permanent infertility.
Fertility is the ability of a couple to conceive, but can related to specifically the man or woman. Various reasons can cause a couple to be infertile, and due to the strong desire of these patients to have <!--LGfEGNT2Lhm-->children, a range of ...
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