TEX13B is essential for metabolic reprogramming during germ cell differentiation.

Study Question: What is the functional significance of Tex13b in male germ cell development and differentiation?

Summary Answer: Tex13b regulates male germ cell differentiation by metabolic reprogramming during spermatogenesis.

What Is Known Already: Studies in mice and humans suggest that TEX13B is a transcription factor and is exclusively expressed in germ cells.

Study Design, Size, Duration: We sequenced the coding regions of TEX13B in 628 infertile men and 427 ethnically matched fertile control men.

Genetic Variants of and Are Not Associated with the Risk of Endometriosis in Indian Women.

An aberrant immunologic mechanism and mitochondrial biogenesis have been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor () gene and peroxisome proliferator-activated receptor-gamma coactivator 1α () may lead to important defects in gene activation, which principally affect immune function and normal mitochondrial function. Therefore, we hypothesized a possible role of and genes in the pathogenesis of endometriosis and analyzed the association of genetic variants ApaI A/C (rs7975232) and TaqI T/C (rs731236) of and rs8192678 (G/A), rs13131226 (T/C), and rs2970856 (T/C) of gene.

Exome sequencing and functional analyses revealed CETN1 variants leads to impaired cell division and male fertility.

Human spermatogenesis requires an orchestrated expression of numerous genes in various germ cell subtypes. Therefore, the genetic landscape of male infertility is highly complex. Known genetic factors alone account for at least 15% of male infertility.

Histone deacetylase 1, Sirtuin 1, and Sirtuin 3 single-nucleotide polymorphisms and the risk of endometriosis in South Indian women.

The aim of the study was to investigate the association between Histone deacetylase 1 (), Sirtuin1 (), and Sirtuin3 () single-nucleotide polymorphisms (SNPs) and risk of endometriosis in South Indian women. A total of 300 subjects were recruited in this case-control study comprising 150 affected women and 150 women with no evidence of disease. All the subjects were of South Indian origin.

Does Choosing Microfluidics for Sperm Sorting Offer an Advantage to Improve Clinical Pregnancies in Donor Egg Recipients?

Background: Microfluidics (MF), an advanced sperm sorting technology results in the extraction of spermatozoa with higher DNA integrity and lower DNA damage compared to existing conventional sperm sorting methods.

Aims: The aim of the present study is to assess the efficiency of MF and to isolate the best spermatozoa for intracytoplasmic sperm injection (ICSI) over the density gradient (DG) technique.

Study Setting And Design: We recruited couples who choose the oocyte donation programme for this study to eliminate confounding factors associated with oocyte quality.

DNMT1 and DNMT3B gene variants and their association with endometriosis in South Indian women.

Background: Endometriosis is a multifactorial estrogen dependent gynecological disease characterized by implantation of functional endometrial tissue at ectopic positions. Though this disease is benign, it is associated with an increased risk of malignant transformation. Epigenetic disruptions like aberrant DNA methylation, resulting changes in gene expression capacity, are important in tumor progression and malignant cellular transformation.

Association of genetic variations in phosphatase and tensin homolog (PTEN) gene with polycystic ovary syndrome in South Indian women: a case control study.

Purpose: The purpose of the study was to investigate the association between gene phosphate and tensin homolog (PTEN) single nucleotide polymorphisms (SNPs) and risk of developing polycystic ovary syndrome (PCOS) in South Indian women. PTEN is one of the most important tumor suppressor genes that regulate cell proliferation, migration, and death. It is also involved in the maintenance of genome stability.

Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development.

Steroidogenic factor 1 (NR5A1/SF1) is a key transcription factor that is known to regulate the development of adrenal glands and gonads and is also involved in steroidogenesis. Several pathogenic NR5A1 variants have been reported to cause 46,XY disorders of sex development (DSD), with varying clinical phenotypes ranging from hypospadias to complete gonadal dysgenesis. Most often, the primary cause of DSD is due to variants in gene(s) related to gonadal development or the steroidogenic pathway.

Timely Identification of Pregnancy in Noncommunicating Horn of Unicornuate Uterus by Three-Dimensional Transvaginal Ultrasonography.

Pregnancy in the rudimentary horn of a unicornuate uterus is uncommon and needs to be diagnosed at early stages to avoid uterine rupture to avert the high morbidity and mortality. In this case report, we discussed the advantage of three-dimensional transvaginal ultrasonography (3D TV-USG) in assessing the early pregnancy in the noncommunicating rudimentary horn of uterus. A 23-year-old woman approached us for routine pregnancy scan.

Influence of tumour suppressor gene (TP53, BRCA1 and BRCA2) polymorphisms on polycystic ovary syndrome in South Indian women.

Objective: Polycystic Ovary Syndrome (PCOS) is a heterogeneous multifactorial endocrine metabolic disorder. In addition to hyperandrogenism, acne, hirsutism, obesity, oligoanovulation and infertility, insulin resistance is also a common feature in women of PCOS. Tumor suppressor genes (TSGs) perform essential function in the maintenance of genomic stability and regulatory pathways influencing the activity of several replication and transcription factors.

Impact of mitochondrial DNA copy number and displacement loop alterations on polycystic ovary syndrome risk in south Indian women.

Sequencing of mitochondrial displacement-loop (D-loop) of polycystic ovary syndrome (PCOS) patients and (n=118) and controls (n=114) of south Indian origin showed significant association of D310 (P=0.042) and A189G (P=0.018) SNPs with PCOS.

Polymorphisms in the TFAM and PGC1-α genes and their association with polycystic ovary syndrome among South Indian women.

We investigated the link between polymorphisms in genes involved in mitochondrial biogenesis, mitochondrial transcription factor A (TFAM) and Peroxisome proliferator activated receptor gamma coactivator-1 alpha (PGC-1α) and further studied the role of these genes on the pathophysiology of polycystic ovary syndrome (PCOS). This case-control study was carried out in 118 PCOS cases and 110 controls. In the present study we genotyped three polymorphisms of PGC1-α gene (rs8192678-Gly482Ser, rs13131226 and rs2970856) and polymorphism of TFAM gene (rs1937-+35G/C) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) analysis.

Vitamin D receptor gene polymorphisms and risk of polycystic ovary syndrome in South Indian women.

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder of reproductive age women. Emerging evidence suggests that Vitamin D Receptor (VDR) might be a causal factor for characteristics associated with PCOS such as obesity and type 2 diabetes. Present study investigated association between VDR gene BsmI A/G (rs1544410), ApaI A/C (rs7975232) and TaqI T/C (rs731236) single nucleotide polymorphisms and PCOS risk in South Indian women.

Analysis of Connexin37 gene C1019T polymorphism and PCOS susceptibility in South Indian population: case-control study.

Objective: Polycystic ovarian syndrome (PCOS) is a complex and multifactorial disorder believed to be the consequence of a complex interaction between genetic, immunological, and environmental factors. The main aim of this study was to investigate the association of Connexin37 (Cx37)/Gap junction alpha 4 (GJA4) gene C1019T single nucleotide polymorphism (SNP) with the susceptibility to polycystic ovarian syndrome (PCOS) in South Indian women.

Study Design: This study comprises 98 PCOS patients and 100 healthy women without PCOS of South Indian origin.

Impact of different controlled ovarian stimulation protocols on the physical and psychological burdens in women undergoing in vitro fertilization/intra cytoplasmic sperm injection.

Context: Infertility treatment involves a considerable amount of physical and psychological burden which may impact the outcome.

Aim: The objective was to understand the amount of physical and psychological burden in women undergoing their first in vitro fertilization (IVF)/intra cytoplasmic sperm injection (ICSI) cycles.

Setting And Design: Multi-center, prospective, parallel, observational study.

BRCA1 alterations are associated with endometriosis, but BRCA2 alterations show no detectable endometriosis risk: a study in Indian population.

Purpose: To investigate the role of genetic variations and expression alterations of BRCA1 and BRCA2 genes in the pathophysiology of endometriosis.

Methods: A genetic association study was conducted in 573 endometriosis cases and 490 controls of Indian origin. We genotyped 13 selected promoter SNPs of BRCA1 gene and 2 selected promoter SNPs of BRCA2 gene by PCR-sequencing analysis.

The VEGF +405 G>C 5' untranslated region polymorphism and risk of PCOS: a study in the South Indian Women.

Purpose: The aim of this study was to investigate the association between two common single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor (VEGF) gene (-460C/T and +405G/C) and polycystic ovary syndrome (PCOS) risk in south Indian women.

Methods: This study involves clinically confirmed PCOS patients (n = 126) and non-PCOS controls (n = 130) of south Indian origin (Dravidian linguistic group). Genotyping of the VEGF gene -460C/T and +405G/C SNPs were performed by PCR and sequencing analysis.

Luteinizing hormone and follicle stimulating hormone synergy: A review of role in controlled ovarian hyper-stimulation.

Luteinizing hormone (LH) in synergy with follicle stimulating hormone (FSH) stimulates normal follicular growth and ovulation. FSH is frequently used in assisted reproductive technology (ART). Recent studies have facilitated better understanding on the complementary role of the LH to FSH in regulation of the follicle; however, role of LH in stimulation of follicle, optimal dosage of LH in stimulation and its importance in advanced aged patients has been a topic of discussion among medical fraternity.

Mutations in the PTEN tumor gene and risk of endometriosis: a case-control study.

Study Question: Are mutations in the phosphatase and tensin homolog deleted on chromosome 10 (PTEN) gene associated with endometriosis?

Summary Answer: Loss of heterozygosity (LOH) at the 10q23.3 locus, PTEN somatic mutations and changes in the levels and distribution of proteins in the PTEN-PI3K/Akt signal transduction pathway are associated with endometriosis.

What Is Known Already: Endometriosis has a strong genetic basis.

Mitochondrial NADH:ubiquinone oxidoreductase alterations are associated with endometriosis.

Genetic alterations and aberrant expression of 'mitochondrial membrane complex I' (MMC-I) underlie several complex human disorders, but no reports are documented to date in endometriosis. Sequencing of mitochondrially encoded MMC-I subunits revealed 72 mutations of which 2 missense (G10398A; A13603A/G) mutations and 1 synonymous (T10400C) mutation showed higher prevalence in patients. In silico functional analysis predicted A13603A/G, a novel heteroplasmy as a 'damaging variant'.

Mitochondrial displacement loop alterations are associated with endometriosis.

Objective: To evaluate the association of mitochondrial displacement (D-) loop alterations with endometriosis in south Indian women.

Design: Case-control study.

Setting: Biochemistry and molecular biology laboratories.

Unique case reports associated with ovarian failure: necessity of two intact x chromosomes.

Premature ovarian failure is defined as the loss of functional follicles below the age of 40 years and the incidence of this abnormality is 0.1% among the 30-40 years age group. Unexplained POF is clinically recognized as amenorrhoea (>6 months) with low level of oestrogen and raised level of Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH > 20 IU/l) occurring before the age of 40.

Mitochondrial genome variations in advanced stage endometriosis: a study in South Indian population.

Background: Endometriosis is a chronic gynecological benign disease that shares several features similar to malignancy. Mitochondrial DNA (mtDNA) mutations have been reported in all most all types of tumors. However, it is not known as to whether mtDNA mutations are associated with endometriosis.