Diminished DNA binding affinity of DMRT1 caused by heterozygous DM domain mutations is a cause of male infertility.

The most severe form of male infertility is idiopathic non-obstructive azoospermia (NOA), a complete sperm absence in the ejaculate. We performed exome sequencing in the Croatian infertile brothers with NOA and found a variant in DMRT1 (Doublesex and mab-3 related transcription factor 1) gene that was further assessed by the EMSA assay and molecular dynamic simulations. We additionally screened for DMRT1 mutations in 1940 infertile men diagnosed with spermatogenic failure, 644 normozoospermic controls, and 105 females with primary ovarian insufficiency (POI) recruited to the GEnetics of Male INfertility Initiative (GEMINI) or Estonian Andrology (ESTAND) cohorts.

Shape-controlled movement of Zn/SU-8 micromotors.

Creating micromotors (MMs) that will have the highest possible velocities has become one of the main focuses in the field of autonomous microdevices research. The importance of velocity stems from various autonomous microdevices applications, ranging from faster drug delivery to the eradication of various bacterial biofilms using only mechanical movement. To investigate how different shapes affect the velocity of Zn/SU-8 micromotors in acid solution, we fabricated micromotors with various geometries (Zn/SU-8/Cylindrical, Zn/SU-8/Rectangular cuboid, Zn/SU-8/Triangular prism, Zn/SU-8/Pentagonal prism and Zn/SU-8/Pentagrammic prism MMs).

Dynamics of HSD17B3 expression in human fetal testis: implications for the role of Sertoli cells in fetal testosterone biosynthesis.

Androgens play a pivotal role in shaping male sexual characteristics, with testosterone being an essential hormone in orchestrating various developmental processes. Testosterone biosynthesis involves a series of enzymatic reactions, among which the 17β-hydroxysteroid dehydrogenase type 3 (HSD17B3) holds significance. While its role in adult Leydig cells is well established, its localization and importance during the fetal period remain less known, especially in humans.

Maternal hemoglobin drop in multiple pregnancy is associated with higher gestational age at birth and birthweight.

Introduction: This retrospective study investigated the hypothesis that maternal hemoglobin (Hb) levels in twin pregnancy fall between the first and second trimesters and that higher falls are associated with higher gestational age at birth and higher birthweight (BW).

Material And Methods: The study population was defined as pregnant women with twin pregnancies delivering two live, phenotypically normal neonates, after 24 weeks of gestation, between October 2009 and September 2021 at an inner London maternity unit. Maternal Hb and mean corpuscular volume (MCV), at ≤14 weeks of gestation (Hb1) and again at 20-30 weeks gestation (Hb2) were recorded from the Hospital's perinatal database.

FANCM Gene Variants in a Male Diagnosed with Sertoli Cell-Only Syndrome and Diffuse Astrocytoma.

Azoospermia is a form of male infertility characterized by a complete lack of spermatozoa in the ejaculate. Sertoli cell-only syndrome (SCOS) is the most severe form of azoospermia, where no germ cells are found in the tubules. Recently, FANCM gene variants were reported as novel genetic causes of spermatogenic failure.