An observational study in Male Infertility, sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Completed at 1 site in Sweden. Open to male participants aged 20 Years to 45 Years. Per ClinicalTrials.gov, last updated 2018-04-05.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
This study is being conducted at the University Hospital of Lund University in Malmo, Sweden, in collaboration with the U.S. National Institute of Child Health and Human Development. The study will try to identify genetic causes of impaired sperm production and male infertility. It will focus on the possible role of the MTHFR and CBS genes, which regulate absorption and metabolism of the vitamin, folate in infertility. If the nutritional intake or metabolism of this vitamin is related to male infertility, then this cause of infertility would be potentially curable.
Fertile and infertile men between 20 and 45 years of age may be eligible for this study. Criteria include the following:
All participants will have the following tests and procedures:
In addition, infertile men will undergo a physical examination and review of their medical records.
It is evident that genetic variation plays a substantial role in the etiology of male infertility. Studies of children fathered through intracytoplasmic sperm injection or ICSI have revealed mutations on the AZF region of the Y chromosome linked to male infertility. Mutations of other genes may also be involved. Candidates would include genes for the androgen receptor, follicle-stimulating hormone, and luteinizing hormone, and genes involved in the regulation of spermatogenesis and sperm motility. Mutations in mitochondrial DNA have been linked to poor sperm motility and raise the possibility that some types of male subfertility may be inherited only through the female line.
We propose to assess the role of folate/homocysteine status and MTHFR and CBS gene variants in infertile men in Sweden with no known cause for their infertility and whose wives/partners appear to be fertile. We propose to perform the study in Sweden since Sweden, unlike the U.S., at present does not mandate the enrichment of flour or other foodstuffs with folate.
2,506 studies on the registry are indexed under Infertility; 407 are open to participants now.
This study's enrollment of 400 is above the median of 200 across 714 observational studies indexed under Infertility.
Browse Infertility studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 416 studies on the registry; 25 are open to participants now.
Of its 13 completed or terminated interventional studies of FDA-regulated products, 10 (77%) have results posted.
Counted across the registry records on this site, refreshed daily.
Referred to the Scanian Andrology Centre.
Age 20-45.
Partner age less than 40.
Having had regular sexual intercourse without contraception for a year or more without achieving a pregnancy.
EXCLUSION CRITERIA INFERTILE MEN:
Klinefelters syndrome.
Hypogondotropic hypogonadism.
Y-chromosome microdeletion or abnormality.
Other genetic cause for infertility.
Obstructive azoospermia.
Partner with salpingitis.
Partner with polycystic ovarian syndrome.
Partner with disturbance of ovulation.
Partner with endometriosis.
History of cancer.
History of treatment with cytotoxic drugs, irradiation, or sulfasalazopyrine.
History of cryptorchidism.
History of mumps orchitis.
History of vasectomy.
INCLUSION CRITERIA FERTILE MEN:
Partner attending Lund University prenatal clinic.
Age 20-45.
Partner age less than 40.
Having fathered one or more pregnancies.
Having stopped birth control to achieve present pregnancy.
Having achieved present pregnancy in less than 12 months of unprotected intercourse.
EXCLUSION CRITERIA FERTILE MEN:
History of cancer.
History of treatment with cytotoxic drugs, irradiation, or sulfasalazopyrine.
History of cryptorchidism.
History of mumps orchitis.
Having sought or partner having sought treatment or investigation for fertility.
This study is completed, as verified in Aug 2012. You cannot join it, but the record below documents what was studied.
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Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)