113 research outputs found
Follicle Stimulating Hormone Receptor (FSHR) Polymorphisms and Polycystic Ovary Syndrome (PCOS)
Polycystic ovary syndrome (PCOS) is the commonest endocrine abnormality in women
of reproductive age typically presenting with chronic oligo- or anovulation, clinical, or
biochemical hyperandrogenism and polycystic ovarian morphology (PCOM). Restoring
mono-ovulation is the ultimate goal of ovulation induction and most women do respond to
ovulation inducing agents causing their Follicle-stimulating hormone (FSH) levels to rise.
Familial clustering and the results from twin studies strongly support an underlying genetic
basis for PCOS. Recent Genome wide association studies (GWAS) have identified several
genetic variants being genome wide significantly associated with PCOS. Amongst those
are variants in or near the Luteinizing hormone (LH) and FSH receptor genes as well
as a variant in the FSH-Ξ² gene. The aim of this review is to summarize the available
evidence as to whether single nucleotide polymorphisms are able to modify the PCOS
phenotype or whether they constitute a risk factor for the syndrome. Data on the
role of FSHR polymorphisms in PCOS are conflicting. It seems that in large Chinese
studies FSHR polymorphisms are not associated with either PCOS risk or with PCOS
treatment outcome. However, in large scale studies in Caucasians these polymorphisms
seem to influence the risk of having PCOS. Moreover, these studies also showed that
some polymorphisms might affect some clinical features of PCOS as well as treatment
outcome. Although most research has focussed on the role of FSHR polymorphisms
there seems to be also some evidence showing that single nucleotide polymorphisms
(SNPs) in the LHCG-Receptor as well as those in FSH-Ξ² gene might also alter the
phenotype of PCOS. In conclusion most studies confirm that FSHR polymorphisms do
alter the phenotype of PCOS in that they either alter the response to exogenous FSH or
hat they increase the risk of having PCOS
Management of infertility in a patient presenting with ovarian dysfunction and McCune-Albright syndrome
Persistent autonomous ovarian dysfunction in McCune-Albright syndrome
(MAS) patients is associated with the development of multiple dominant
follicles, premature luteinization, cyst formation, and anovulatory
infertility. Due to the mosaic distribution of the mutation, ovaries may
be unequally affected. In the current patient, the least affected ovary
became quiescent upon GnRH agonist-induced gonadotropin suppression.
Normoovulatory cycles were restored after subsequent removal of the
affected right ovary, and a pregnancy was established within 3 months. A
healthy unaffected girl was born at term after an uneventful pregnancy.
The placental tissue was normal, and the mutation was not detected in the
placenta, umbilical cord structures, or umbilical cord blood. GnRH analog
administration may help to identify those MAS patients who might benefit
from unilateral ovariectomy. Because a healthy baby was born, evidence is
provided suggesting that MAS is not passed on to the children from the
parents
Anti-MΓΌllerian hormone and ovarian morphology in women with hypothalamic hypogonadism
Context: Different phenotypical features of women with hypothalamic hypogonadism (HH), also known as World Health Organization-1 anovulation, including ovarian morphology, have been scarcely described in large cohorts. Some studies have reported increased levels of anti-MΓΌllerian hormone (AMH) in women with HH. Objective: To assess whether women with HH, compared with healthy controls, have increased serum levels of AMH and what proportion of these women erroneously meet the Rotterdam Criteria for Polycystic Ovarian Syndrome (PCOS). Design, Setting and Participants: Retrospective cohort study in a Dutch academic medical center including 83 women with neither anovulation nor menstrual cycle disorders (healthy controls), 159 women with HH and 3640 women with PCOS. Age matching was used between the HH and PCOS group (1:2 ratio) to create a second group consisting of 318 age-matched women with PCOS. Intervention: None. Main outcome measures: AMH levels and ovarian morphology. Results: Median AMH serum levels for the HH group were 3.8 (<0.1β19.8), compared with 7.5 (<0.1β81.0) in the PCOS group and 1.9 (<0.1β21.5) in the control group (P < 0.001). In the HH group, 58 (36%) erroneously met the Rotterdam Criteria for PCOS (meeting 2 of 3 criteria). Conclusions: AMH levels are increased in women with HH. We hypothesize that this increase, although there was no increase in follicle count, may be explained by the presence of a relatively large pool of antral follicles smaller than 2 mm in diameter, that are undetectable by transvaginal ultrasound. This study highlights the importance of measuring gonadotropins and estradiol before diagnosing a patient with PCOS. (J Clin Endocrinol Metab 105: 1β7, 2020
Age-related differences in features associated with polycystic ovary syndrome in normogonadotrophic oligo-amenorrhoeic infertile women of reproductive years
OBJECTIVE: To assess the effect of age on clinical, endocrine and
sonographic features associated with polycystic ovary syndrome (PCOS) in
normogonadotrophic anovulatory infertile women of reproductive years
Patient predictors for outcome of gonadotrophin ovulation induction in women with normogonadotrophic anovulatory infertility: a meta-analysis
A systematic review was conducted to determine whether initial screening
characteristics of wo
Subfertility in Women With Rheumatoid Arthritis and the Outcome of Fertility Assessments
_Objective:_ Subfertility is frequently encountered among female rheumatoid arthritis (RA) patients and has been associated with disease activity and antirheumatic drugs. However, little is known about the results of the fertility assessments in these women. Our aim was to study the outcome of fertility assessments in subfer
Buccal swab as a reliable predictor for X inactivation ratio in inaccessible tissues
Background As a result of the epigenetic phenomenon of X chromosome inactivation (XCI) every woman is a mosaic of cells with either an inactive paternal X chromosome or an inactive maternal X chromosome. The ratio between inactive paternal and maternal X chromosomes is different for every female individual, and can influence an X-encoded trait or disease. A multitude of X linked conditions is known, and for many of them it is recognised that the phenotype in affected female carriers of the causative mutation is modulated by the XCI ratio. To predict disease severity an XCI ratio is usually determined in peripheral blood samples. However, the correlation between XCI ratios in peripheral blood and disease affected tissues, that are often inaccessible, is poorly understood. Here, we tested several tissues obtained from autopsies of 12 female individuals for patch size and XCI ratio. Methods XCI ratios were analysed using methylsensitive PCR-based assays for the AR, PCSK1N and SLITRK4 loci. XCI patch size was analysed by testing the XCI ratio of tissue samples with decreasing size. Results XCI patch size was analysed for liver, muscle, ovary and brain samples and was found too small to confound testing for XCI ratio in these tissues. XCI ratios were determined in the easily accessible tissues, blood, buccal epithelium and hair follicle, and compared with ratios in several inaccessible tissues. Conclusions Buccal epithelium is preferable over peripheral blood for predicting XCI ratios of inaccessible tissues. Ovary is the only inaccessible tissue showing a poor correlation to blood and buccal epithelium, but has a good correlation to hair follicle instead
ΠΠΏΡΡ ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΡ ΠΊΡΠΈΠΎΡ ΠΈΡΡΡΠ³ΠΈΠΈ Π² Π³ΠΈΠ½Π΅ΠΊΠΎΠ»ΠΎΠ³ΠΈΠΈ
ΠΡΠΈΠ²Π΅Π΄Π΅Π½Ρ ΡΠ΅Π·ΡΠ»ΡΡΠ°ΡΡ ΠΏΡΠΈΠΌΠ΅Π½Π΅Π½ΠΈΡ Π½ΠΈΠ·ΠΊΠΈΡ
ΡΠ΅ΠΌΠΏΠ΅ΡΠ°ΡΡΡ Π΄Π»Ρ Π»Π΅ΡΠ΅Π½ΠΈΡ ΡΡΠ΄Π° Π³ΠΈΠ½Π΅ΠΊΠΎΠ»ΠΎΠ³ΠΈΡΠ΅ΡΠΊΠΈΡ
Π·Π°Π±ΠΎΠ»Π΅Π²Π°Π½ΠΈΠΉ ΠΈ ΠΎΠ±ΠΎΡΠ½ΠΎΠ²Π°Π½Π° Π½Π΅ΠΎΠ±Ρ
ΠΎΠ΄ΠΈΠΌΠΎΡΡΡ ΡΠΈΡΠΎΠΊΠΎΠ³ΠΎ Π²Π½Π΅Π΄ΡΠ΅Π½ΠΈΡ ΠΊΡΠΈΠΎΠ³Π΅Π½Π½ΠΎΠ³ΠΎ ΠΌΠ΅ΡΠΎΠ΄Π° Π»Π΅ΡΠ΅Π½ΠΈΡ Π² ΠΊΠ»ΠΈΠ½ΠΈΡΠ΅ΡΠΊΡΡ ΠΏΡΠ°ΠΊΡΠΈΠΊΡ.The results of low temperature application in treatment of a number of gynecological diseases are presented, the necessity of wide introduction of cryogenic treatment into clinical practice is substantiated
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