Non-Chromosomal, Non-Iatrogenic Premature Ovarian Failure in an Adolescent Population: A Case Series

Cameron, Melissa; Grover, Sonia; Moore, Paddy; Jayasinghe, Yasmin

doi:10.1016/j.jpag.2007.07.003

Cited by 13 publications

(10 citation statements)

References 20 publications

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“…Turner syndrome is the chromosomal disorder most commonly associated with POF, but the correlation between ovarian function and karyotype is less clear [39, 40]. Nevertheless, the highest number of follicles were found in subjects with mosaic Turner syndrome and, above all, in subjects with the lowest percentage of cells with the 45,X karyotype [41].…”

Section: Discussionmentioning

confidence: 99%

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Baronchelli

Conconi

Panzeri

et al. 2011

BioMed Research International

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The importance of X chromosome in the aetiology of premature ovarian failure (POF) is well-known but in many cases POF still remains idiopathic. Chromosome aneuploidy increase is a physiological phenomenon related to aging, but the role of low-level sex chromosome mosaicism in ovarian function is still undiscovered. Standard cytogenetic analysis was carried out in a total of 269 patients affected by POF: 27 chromosomal abnormalities were identified, including X chromosome and autosomal structural and numerical abnormalities. In 47 patients with 46,XX karyotype we performed interphase FISH using X alpha-satellite probe in order to identify X chromosome mosaicism rate. Aneuploidy rate in the patient group was significantly higher than the general population group. These findings underline the importance of X chromosome in the aetiology of POF and highlight the potential role of low-level sex chromosome mosaicism in ovarian aging that may lead to a premature onset of menopause.

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Section: Discussionmentioning

confidence: 99%

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Baronchelli

Conconi

Panzeri

et al. 2011

BioMed Research International

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“…2<4 Furthermore, early menopause and premature ovarian failure are thought to have a strong familial component. 5,19 Many studies, from histological data and mathematical modeling, have shown that the number of follicles present in the ovaries declines with age, and when few are remaining, menopause ensues. 18,20,21 It appears that AFC is related to the number of follicles remaining in the ovary.…”

Section: Discussionmentioning

confidence: 99%

Is antral follicle count a genetic trait?

et al. 2010

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“…POF is the aetiology in 10-28% of the cases with primary amenorrhoea and in 4-18% of those with secondary amenorrhoea [6,9,14,15]. There are ethnic differences ranging from 1.4% in women of African-American and Hispanic descent to 1.0% in Caucasian, 0.5% in Chinese and 0.1% in Japanese women [6,16].…”

Section: Epidemiologymentioning

confidence: 99%

Premature ovarian failure from current perspective

Kökçü

2010

Gynecological Endocrinology

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Premature ovarian failure (POF) is a syndrome characterised by amenorrhoea, hypoestrogenism and hypergonadotropinism before the age of 40. It is a disorder affecting approximately 1% of women <40 years, 1/1,000 women by the age of 30 and 1/10,000 women by the age of 20. POF is not merely an early menopause. Up to 50% of the patients with POF will have intermittent and unpredictable ovarian function which may persist for some years. Heterogeneity of POF is also reflected by the variety of possible causes, including autoimmunity, toxics, drugs, radiation, infectious as well as genetic defects. HRT remains the cornerstone of treatment and the only proven method of achieving pregnancy in these patients is by ovum donation.

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Non-Chromosomal, Non-Iatrogenic Premature Ovarian Failure in an Adolescent Population: A Case Series

Cited by 13 publications

References 20 publications

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Cytogenetics of Premature Ovarian Failure: An Investigation on 269 Affected Women

Is antral follicle count a genetic trait?

Premature ovarian failure from current perspective

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