Comparison of the Fetal Fraction of Cell-Free DNA in In-Vitro Fertilization (IVF) Versus Natural Conception Evaluation of the Fetal Fraction With IVF Parameters.

Background As the offspring of assisted reproduction techniques (ARTs) have become a substantial proportion of the population, increased attention has been placed on the safety of ART. Investigators have focused on identifying a tool that combines molecular or biological tests that can predict the outcomes of in-vitro fertilization (IVF) or intracytoplasmic sperm injection and the resulting pregnancy after ART-mediated embryo implantation. This study aimed to answer the following questions: is there a difference between natural conception and IVF pregnancies regarding fetal fraction (FF) of cell-free DNA (cfDNA) in maternal age, birth weight, gender, and gestational age? Is there a difference between FF concentration regarding the parameters of IVF as possible predictive factors affecting the outcomes of IVF? Methodology This study included 31 women with singleton pregnancies conceived via IVF who underwent cell-free fetal DNA (cffDNA) screening for trisomy 13, 18, and 21; sex determination; and FF.

Past, Present, and Future of Gonadotropin Use in Controlled Ovarian Stimulation During Assisted Reproductive Techniques.

A variety of protocols have evaluated the use of several forms of gonadotropins in controlled ovarian stimulation (COS). We aim to review the evolving trends on the use of gonadotropins human chorionic gonadotropin (hCG), follicle-stimulating hormone (FSH) and luteinizing hormone (LH) over time and their combinations in COS for patients who undergo assisted reproductive techniques (ART) protocols. A meticulous search of three electronic databases was performed for articles published in the field up to September 2020.

The Role of FSHR SNPs and AMH in Follicular Fluid and Serum in Ovarian Response during COS: A Pilot Study.

Background: Several studies have investigated on the polymorphism Ser680Asn of FSHR and its use as a predictive indicator of response to an IVF/ICSI protocol. Furthermore, measurement of AMH in serum and follicular fluid is a useful prognostic indicator for the outcome of an assisted reproduction attempt. The purpose of this study is to examine the FSH receptor Ser680Asn polymorphism in combination with AMH levels in both serum and follicular fluid, on the day of oocyte collection.

Individual and Combined Assessment of Ser680Asn FSH Receptor and FSHβ-211 G>T Gene Polymorphisms in Ovarian Response in IVF/ICSI Program.

Background: Molecular biology tools, such as the detection of Single Nucleotide Polymorphisms (SNPs), have been considered to assist in the management of ovarian stimulation protocols.

Purpose: The aim of this study was to evaluate the impact of two polymorphisms, the Asn680Ser polymorphism of the FSHR gene, and the FSH β subunit (FSHβ) gene polymorphism -211 G>T, in a Greek population of women undergoing IVF/ICSI program in our center. In addition, a control group of fertile women was studied to verify whether there are differences in the genotype distribution between fertile and infertile population for both polymorphisms, as the FSHβ gene polymorphism -211 G>T is studied for the first time in the Greek population.

Pseudohypoparathyroidism type 1B (PHP1B), a rare disorder encountered in adolescence.

Objectives The objective of this paper is to report a peculiar case of a patient with pseudohypoparathyroidism type 1b (PHP1B). Pseudohypoparathyroidism (PHP) refers to a group of disorders characterized by hypocalcemia, hyperphosphatemia, and elevated parathyroid hormone (PTH) concentrations as the result of end-organ unresponsiveness to PTH. Case presentation We present a 14-year-old boy, who was admitted with severe symptomatic hypocalcaemia, absence of dysmorphic features and Albright's hereditary osteodystrophy features.

The effects of follicle-stimulating hormone receptor (FSHR) -29 and Ser680Asn polymorphisms in IVF/ICSI.

Background The aim of this study was to analyze two different polymorphisms, Ser680Asn and -29 (G>A) promoter polymorphism, of the follicle-stimulating hormone receptor (FSHR) gene, individually but also in combination, in a sample of Greek women undergoing in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). Materials and methods One hundred and forty-one women undergoing IVF or ICSI and 94 controls were genotyped by real-time polymerase chain reaction (RT-PCR) for the two FSHR polymorphisms. The association of the alleles with the clinical, biochemical and other parameters concerning the controlled ovarian stimulation (COS) protocol and outcome was investigated, as well as the pregnancy rate.

Combined study on the single nucleotide polymorphisms in the follicle-stimulating hormone receptor (Ser680Asn) and anti-Müllerian hormone receptor type II (-482A>G) as genetic markers in assisted reproduction.

Background Infertile women may have underlying genetic abnormalities. There is, at present, a significant number of studies on the relation between the follicle stimulating hormone receptor (FSHR) or anti-Müllerian hormone type II receptor (AMHRII) polymorphisms and response to in-vitro fertilisation (IVF) treatment. However, it is not yet clear which genotype or combination of genotypes is favourable towards a better ovarian stimulation and pregnancy outcome.

Familial MTC with exon 8 Gly533Cys mutation: origin and prevalence of second malignancy.

Introduction: High prevalence of p.Gly533Cys (c.1597G > T) has been found in familial MTC in Greece (exon 8 fMTC).

An Unusual Case of Malignant Struma Ovarii Causing Thyrotoxicosis.

Background: Struma ovarii (SO) is a specialized monodermal teratoma predominantly composed of mature thyroid tissue, accounting for approximately 5% of all ovarian teratomas. Thyrotoxicosis is seen in about 8% of patients with SO. Most SO cases are benign with only 5-10% being malignant, and malignant SO causing thyrotoxicosis is very uncommon.

Effect of recombinant-LH and hCG in the absence of FSH on in vitro maturation (IVM) fertilization and early embryonic development of mouse germinal vesicle (GV)-stage oocytes.

During in vitro maturation (IVM), intrinsic and extrinsic factors must co-operate properly in order to ensure cytoplasmic and nuclear maturation. We examined the possible effect of LH/hCG in the process of oocyte maturation in mice with the addition of recombinant LH (r-LH) and hCG in our IVM cultures of mouse germinal vesicle (GV)-stage oocytes. Moreover, the effects of these hormones on fertilization, early embryonic development and the expression of LH/hCG receptor were examined.

Single nucleotide polymorphisms in the Anti-Müllerian hormone (AMH Ile(49)Ser) and Anti-Müllerian hormone type II receptor (AMHRII -482 A>G) as genetic markers in assisted reproduction technology.

Purpose: The aim of the study was to evaluate whether the presence Antimullerian hormone (AMH) and Antimullerian hormone type II receptor (AMHRII) single nucleotide polymorphisms (SNPs) Ile(49)Ser and -482A>G respectively are related to the assisted reproduction outcome.

Methods: A prospective cross-sectional observational study was conducted in order to assess the distribution of AMH and AMHRII SNPs in two cohorts, one of healthy women (N = 100) and the control group and the IVF/ICSI group (N = 151) consisted of women undergoing IVF/ICSI treatment for infertility. Furthermore, a prospective longitudinal observational study was performed on the latter group to assess possible associations of these SNPs with patients' characteristics and controlled ovarian stimulation (COS) and pregnancy outcome.

The impact of genetics profile (gene polymorphisms) in obese non-PCOS women entering an IVF/ICSI program.

Data concerning the effects of increased body mass index (BMI) on ovarian and pregnancy outcome are rich, but the results are rather controversial. Regarding pharmacogenetics, gene polymorphisms of hormonal receptor genes, such as Estrogen Receptor alpha (ESR1), Estrogen Receptor beta (ESR2) and FSH receptor (FSHR) genes, are associated with ovarian stimulation and pregnancy outcome and may constitute a useful tool for ART experts for the prediction of this outcome. The aim of this study is to track differences in the distribution of gene polymorphisms among obese non-PCOS and non-obese patients concerning three distinct genes which are involved in the ovarian stimulation mechanism: PvuII polymorphism of ESR1 gene, RsaI polymorphism of ESR2 gene and Ser680Asn variation of FSHR gene, using restriction fragment length polymorphism analysis and real-time polymerase chain reaction.

Do estrogen receptor alpha polymorphisms have any impact on the outcome in an ART program?

Purpose: To investigate two of the most studied estrogen receptor alpha polymorphisms (PvuII and XbaI) in combination, in order to evaluate their impact on an ART program outcome.

Methods: 203 normally ovulating women who underwent IVF or ICSI treatment were genotyped for PvuII and XbaI polymorphisms in ESR1 intron 1 using Real-Time PCR. The relationship between the presence of polymorphic alleles and the ovulation induction parameters and outcome was examined.

Detection of RUNX2 gene expression in cumulus cells in women undergoing controlled ovarian stimulation.

Background: RUNX2 is a transcription factor, whose expression has been recently identified in the mouse ovary. Regulation of RUNX2 expression and its function in the human ovary have not been determined yet. The aim of the present study is the investigation of the possible correlation between RUNX2 gene expression in cumulus cells and controlled ovarian stimulation and pregnancy outcomes after ART treatment.

LH receptor gene expression in cumulus cells in women entering an ART program.

Purpose: Luteinizing hormone (LH) exerts its actions through its receptor (LHR), which is mainly expressed in theca cells and to a lesser extent in oocytes, granulosa and cumulus cells. The aim of the present study was the investigation of a possible correlation between LHR gene and LHR splice variants expression in cumulus cells and ovarian response as well as ART outcome.

Methods: Forty patients undergoing ICSI treatment for male factor infertility underwent a long luteal GnRH-agonist downregulation protocol with a fixed 5-day rLH pre-treatment prior to rFSH stimulation and samples of cumulus cells were collected on the day of egg collection.

Low bone mineral density and high incidences of fractures and vitamin D deficiency in 52 pediatric cancer survivors.

Objective: To evaluate bone mineral density (BMD), fractures, and vitamin D deficiency in pediatric patients in complete remission of solid tumor; and to identify risk factors for these three abnormalities.

Study Design: Data were collected prospectively after completion of cancer treatment. Hormonal and vitamin D deficiencies were treated.

"hCG priming" effect in controlled ovarian stimulation through a long protocol.

Background: Recently, it has been demonstrated that, in patients down-regulated by GnRH analogues (GnRHa), a short-term pre-treatment with recombinant LH (rLH), prior to recombinant FSH (rFSH) administration, increases the number of small antral follicle prior to FSH stimulation and the yield of normally fertilized embryos. However, no data exist in the literature regarding the potential beneficial effect of "hCG priming" in controlled ovarian hyperstimulation (COH) through a long GnRH-a protocol, which binds the same receptor (LH/hCGR), though it is a much more potent compared to LH. The primary aims of this study were to assess the effect of short-term pre-rFSH administration of hCG in women entering an ICSI treatment cycle on follicular development, quality of oocytes and early embryo development.

The role of steroid hormones in ART.

Steroid hormones hold a major role in female fertility and their proper utilisation and monitoring in modern assisted reproduction protocols is important. Oocyte maturation and endometrial receptivity are the two major factors that appear to be related to a successful outcome in Assisted Reproductive Technology (ART). Many reports suggest that oocyte immaturity accounts for a considerable loss of efficiency in ART, mainly due to the poor quality of the obtained embryos and their inability to develop normally.

Intravenous infusion of PAF affects ovulation, fertilization and preimplantation embryonic development in NZB x NZW F1 hybrid mice.

Platelet Activating Factor (PAF) is a bioactive phospholipid, which exhibits a variety of biological activities and plays a significant role in all aspects of reproduction. In this work, a single intravenous injection of various concentrations of PAF shortly after Human Chorionic Gonadotropin (HCG) administration as well as 24 and 48 h before HCG administration was studied in NZB x NZW F1 hybrid mice. Optimum results were observed when PAF was injected just after the administration of HCG.

Luteal estrogen supplementation in stimulated cycles may improve the pregnancy rate in patients undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer.

Objective: To evaluate the effect of estradiol addition to progesterone supplementation during the luteal phase on pregnancy and implantation rates in patients undergoing in vitro fertilization/intracytoplasmic sperm injection-embryo transfer (IVF/ICSI-ET) cycles.

Methods: In this prospective, randomized study, carried out in an IVF unit of a university hospital, we studied patients who were undergoing IVF/ICSI with controlled ovarian hyperstimulation using a gonadotropin-releasing hormone agonist/human recombinant gonadotropin long protocol. The main outcome measures were the pregnancy and implantation rates measured in the two groups.