Mutations in STARD8 (DLC3) May Cause 46,XY Gonadal Dysgenesis.

Introduction: 46,XY gonadal dysgenesis is a condition that is characterised by undeveloped testes in individuals with a male karyotype. Mutations in many genes that underlie this condition have been identified; however, there are still a considerable number of patients with an unknown genetic background. Recently, a mutation in the STARD8 X-linked gene in two sisters with 46,XY gonadal dysgenesis has been reported.

Analysis of Relative Average Length of Telomeres in Leukocytes of Women with COVID-19.

Coronavirus disease (COVID-19) is an acute infectious disease of the respiratory tract caused by a new SARS-CoV-2 coronavirus. A global vaccination program against SARS-CoV-2 continues, and the incidence of COVID-19 worldwide is significantly decreasing. However, among millions of those who survived COVID-19, numerous groups will need assistance due to increased clinical consequences after COVID-19.

A Novel Mutation Identified in a 46,XX Testicular/Ovotesticular DSD Patient Results in the Retention of Intron 9.

The 46,XX testicular DSD (disorder/difference of sexual development) and 46,XX ovotesticular DSD (46,XX TDSD and 46,XX OTDSD) phenotypes are caused by genetic rearrangements or point mutations resulting in imbalance between components of the two antagonistic, pro-testicular and pro-ovarian pathways; however, the genetic causes of 46,XX TDSD/OTDSD are not fully understood, and molecular diagnosis for many patients with the conditions is unavailable. Only recently few mutations in the ( transcription factor; 11p13) gene were described in a group of 46,XX TDSD and 46,XX OTDSD individuals. The protein contains a DNA/RNA binding domain consisting of four zinc fingers (ZnF) and a three-amino acid (KTS) motif that is present or absent, as a result of alternative splicing, between ZnF3 and ZnF4 (±KTS isoforms).

Relationship between the Prevalence of ACE1 I/D Polymorphism Genotype II and Covid-19 Morbidity, Mortality in Ukraine and in Some Europe Countries.

Coronavirus disease (COVID-19), which was first recorded in China in December 2019, quickly spread to other countries and in a short period of time, the local outbreak escalated into a pandemic. There are significantly more cases of COVID-19 morbidity and mortality in European countries than in East Asia, where the disease was first detected. Such population differences are unique, especially for SARS-CoV-2 and are due to both socio-behavioral differences and features of the gene pool of the population of different countries.

Novel missense mutation in ligand binding domain of AR gene identified in patient with androgen insensitivity syndrome from Ukraine.

To improve diagnostic informativity of AR gene mutation analysis in patients with AIS, we recommend to include novel identified missense mutation c.2507T>G in the list of AIS-causing mutations.

Risk of Recurrent Pregnancy Loss in the Ukrainian Population Using a Combined Effect of Genetic Variants: A Case-Control Study.

We assessed the predictive ability of a combined genetic variant panel for the risk of recurrent pregnancy loss (RPL) through a case-control study. Our study sample was from Ukraine and included 114 cases with idiopathic RPL and 106 controls without any pregnancy losses/complications and with at least one healthy child. We genotyped variants within 12 genetic loci reflecting the main biological pathways involved in pregnancy maintenance: blood coagulation (, , , ), hormonal regulation (, ), endometrium and placental function (, ), folate metabolism () and inflammatory response (, , ).