Clinical and cytogenetic studies of patients with polycystic ovary disease

Parker, Renée; Ming, Pen-Ming L.; R, Rajan; Goodner, David M.; Remé, Gerard

doi:10.1016/s0002-9378(15)33238-5

Cited by 13 publications

(7 citation statements)

References 10 publications

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“…Cytogenetic approaches have not identified major chromosomal aberrations (393). Indeed, aneuploidy rates of unfertilized oocytes in women suffering from PCOS did not differ from women with tubal factor infertility (394).…”

Section: A Genetic Toolsmentioning

confidence: 95%

Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome

et al. 2015

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Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown.

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Section: A Genetic Toolsmentioning

confidence: 95%

Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome

et al. 2015

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“…The examined polymorphic markers on chromosome 14 showed a normal biparental inheritance, giving no evidence of UPD 14 in this fetus. Trisomy 14 mosaicism is a rare cytogenetic finding with about 20 patients reported with aneuploid metaphases ranging from 1 to 98% in different tissues (Rethore et al, 1975;Martin et al, 1977;Johnson et al, 1979;Parker et al, 1980;Turleau et al, 1980;Jenkins et al, 1981;Dallapiccola et al, 1984;Fujimoto et al, 1985;Kaplan et al, 1986;Lipson, 1987;Cheung et al, 1988;Wegner et al, 1988;Vachvanichsanong et al, 1991;Ohashi et al, 1992;Lambert et al, 1994;Sepulveda et al, 1998). The clinical features of these patients are quite different, with more severe phenotypes associated with higher percentages of trisomic cells.…”

Section: First-trimester Scan In Trisomy 14 Mosaicismmentioning

confidence: 99%

First‐trimester scan in trisomy 14 mosaicism

Witters

Moerman

2004

Prenatal Diagnosis

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“…Other authors have describqd patients with polycystic ovaries who have also had karyotypic abnormalities hut without thc Turner phenotype (Netler el NI. 1961;Gardo et al 1974;Parker et al 1980). The abnormalities noted were X chromosome mosaicism (13 cases) and pseudodiploidy with trisomy 14 (5 of 15 patients studied).…”

Section: Discussionmentioning

confidence: 98%