Premature Ovarian Failure

Moraes-Ruehsen, Maria De; Jones, George Fenwick

doi:10.1016/s0015-0282(16)36362-2

Cited by 160 publications

(56 citation statements)

References 31 publications

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“…Biochemical estimation of the two cases revealed higher level of gonadotropin hormones, LH (in case 1) and FSH (in case 1 and 2), compared to normal range indicating gonadal dysgenesis in both the cases (Table 1). In previous studies, absence of menarche or amenorrhoea has been reported to be associated with higher level of LH and FSH [6].…”

Section: Discussionmentioning

confidence: 81%

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome

Chauhan

Jaiswal

Lakhotia

et al. 2016

J Assist Reprod Genet

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Purpose In the present study, we reported two cases of TS with mosaic ring X chromosome showing common clinical characteristics of TS like growth retardation and ovarian dysfunction. The purpose of the present study was to cytogenetically characterize both cases. Methods Whole blood culture and G-banding were performed for karyotyping the cases following standard protocol. Origin of the ring chromosome and degree of mosaicism were further determined by fluorescence in situ hybridization (FISH). Breakpoints and loss of genetic material in formation of different ring X chromosomes r (X) in cases were determined with the help of cytogenetic microarray. Results Cases 1 and 2 with ring chromosome were cytogenetically characterized as 45, X [114]/46Xr (X) (p22.11q21.32) [116] and 45, X [170]/46, Xr (X) (p22.2q21.33) [92], respectively. Sizes of these ring X chromosomes were found to be~7 5 and~95 Mb in cases 1 and 2, respectively, using visual estimation as part of cytogenetic observation. In both cases, we observed breakpoints on Xq chromosome were within relatively narrow region between Xq21.33 and Xq22.1 compared to regions in previously reported cases associated with ovarian dysgenesis. Conclusions Our observation agrees with the fact that despite of large heterogeneity, severity of the cases with intact Xinactive specific transcript (XIST) is dependent on degree of mosaicism and extent of Xq deletion having crucial genes involved directly or indirectly in various physiological involving ovarian cyclicity.

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Section: Discussionmentioning

confidence: 81%

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome

Chauhan

Jaiswal

Lakhotia

et al. 2016

J Assist Reprod Genet

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“…Currently, the distinction between self and nonself is considered to involve a series of complicated and multistage interactions between various cells of the immune system. There is currently accumulating evidence that some cases of premature ovarian failure (POF) 1 are due to a faulty recognition of self in the ovary by the immune system. POF or premature menopause is a syndrome clinically defined by failure of the ovary before the age of 40 yr (1).…”

Section: Introductionmentioning

confidence: 99%

“…There is currently accumulating evidence that some cases of premature ovarian failure (POF) 1 are due to a faulty recognition of self in the ovary by the immune system. POF or premature menopause is a syndrome clinically defined by failure of the ovary before the age of 40 yr (1). POF is a heterogeneous disorder with a multicausal pathogenesis, and chromosomal (2-9), genetic (4, 10 -12), enzymatic (13)(14), iatrogenic (15)(16)(17)(18)(19)(20), or infectious (21)(22) aberrations may all form the basis for the disappearance of ovarian follicles.…”

Section: Introductionmentioning

confidence: 99%

Premature Ovarian Failure and Ovarian Autoimmunity

Hoek¹

1997

Endocrine Reviews

212

221

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“…(J Histochem Cytochem 54:397-405, 2006) K E Y W O R D S autoimmune premature ovarian failure false positives blocking agents autoantibodies anti-albumin antibodies THE HUMAN OVARY can be a target for an autoimmune attack under various circumstances. Clinically, the ensuing ovarian dysfunction often results in premature ovarian failure (POF) characterized by amenorrhea lasting 4-6 months and is classically defined as secondary amenorrhea accompanied by a hypergonadotropichypoestrogenic condition before the age of 40 years (deMoraes-Ruehsen and Jones 1967). POF could result from radiation or chemotherapy, environmental factors, genetic defects and chromosomal deletions, and autoimmunity (Hoek et al 1995).…”

mentioning

confidence: 99%

Naturally Occurring Anti-albumin Antibodies Are Responsible for False Positivity in Diagnosis of Autoimmune Premature Ovarian Failure

Pires

Parte

Meherji

et al. 2006

J Histochem Cytochem.

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Autoimmunity is a well-established causative factor of premature ovarian failure (POF), and evidence for the same has been well reported in the literature. Detection of specific autoantibodies remains the most practical clinical research marker of any autoimmune disease. Variation in efficiency and specificity in the detection of ovarian autoantibodies has been reported. However, the frequency of false positivity and a solution to overcome this has not yet been reported. Herein, we report autoantibody to albumin as the likely responsible agent for false positivity. Our data indicate that presence of naturally existing autoalbumin antibodies in the circulation of normal women is responsible for the false signal seen in SDS-PAGE Western blot analysis and in immunohistochemistry (IHC). Having shown the presence of anti-albumin antibody in normal women as well as in the sera of POF patients, we have developed a novel blocking agent to overcome this problem. A high titer polyclonal antibody against human serum albumin was generated. This antibody showed immunoreactivity to albumin obtained from various sources. Preincubation of Western blots and IHC sections with this antibody drastically reduced background signals. The advantage of using this blocking was evident by identification of specific anti-ovarian antibodies in a group of POF patients. This blocking procedure made it possible to obtain a clear indication of the ovarian antibody status in women presenting with autoimmune POF.

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Premature Ovarian Failure

Cited by 160 publications

References 31 publications

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome

Molecular cytogenetic characterization of two Turner syndrome patients with mosaic ring X chromosome

Premature Ovarian Failure and Ovarian Autoimmunity

Naturally Occurring Anti-albumin Antibodies Are Responsible for False Positivity in Diagnosis of Autoimmune Premature Ovarian Failure

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