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Correspondence
Pregnancy in a Woman with a Leptin-Receptor Mutation
To the Editor: Leptin is considered to have an important role in reproductive functions, including menstrual-cycle regulation, pregnancy, and lactation. The absence of leptin action caused by functional mutations in the leptin gene (LEP) or the leptin receptor gene (LEPR) has been linked to…
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Review Article
Genomic Medicine: Genomics and Perinatal Care
Among both prospective parents and providers of medical care, genetic and social concerns peak during the perinatal period. Advances in genomics and assisted reproductive technology have created new opportunities to detect genetic disorders and susceptibilities at multiple times during perinatal…
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Correspondence
Noninvasive Prenatal Diagnosis of a Fetal Microdeletion Syndrome
To the Editor: The definitive diagnosis of fetal aneuploidy and genomic imbalances requires invasive collection of fetal cells through amniocentesis or chorionic villus sampling. These methods are associated with fetal loss and parental anxiety. Analyses of DNA in maternal plasma have shown the…
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Health Law, Ethics, and Human Rights
Assisted Reproduction — Canada's Supreme Court and the “Global Baby”
The debate in the U.S. Supreme Court about whether it is legitimate for the justices to consider the opinions of courts in other countries is ongoing. There is no parallel debate about the relevance of medical findings from other countries, because human anatomy and physiology are universal. Law is…
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Clinical Implications of Basic Research
Sperm and the Proton Channel
The signaling mechanisms used by sperm — to capacitate, migrate to the fertilization site, penetrate the thick layers of cumulus oophorus and the zona pellucida, fuse with the egg membrane, and activate the egg — are poorly understood at the molecular level. A recent study by Lishko and…
Original Article
Brief Report: Spermatogenesis in a Man with Complete Deletion of USP9Y
Deletions of the distal euchromatic region of the Y chromosome (Yq11) are associated with spermatogenic failure. The locus, named azoospermia factor (AZF), extends from the proximal to the distal end of the q region of the Y chromosome and contains three regions: AZFa, AZFb, and AZFc. The AZFa…
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The azoospermia factor region A (AZFA) on chromosome Y contains two genes, one of which is USP9Y. Deletions in this region have been associated with male infertility. However, a man and his father and brother, all of whom carry a deletion that encompasses USP9Y, are normospermic, providing definitive evidence that USP9Y is not required for spermatogenesis.
Original Article
Microdeletions in the Y Chromosome of Infertile Men
Infertility affects about 15 percent of all couples attempting pregnancy, with the man responsible in approximately half the cases. It is best defined as the inability to conceive after one year of unprotected intercourse, and thus the definition includes men with subfertility. Proposed causes of…
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