Three new families with recurrent male miscarriages and hypercoiled umbilical cord

The uterus, commonly called the womb, is a vital reproductive organ in females designed to provide a nurturing environment for the implantation and growth of an embryo. It is shaped like a hollow pear and positioned between the urinary bladder and the rectum. The uterus's structure allows it to support and protect a developing fetus throughout pregnancy.
The uterus is securely anchored within the pelvic cavity by paired broad ligaments on either side. It is further stabilized by three pairs...

Male infertility affects millions of couples worldwide, arising from various factors that impact different stages of the reproductive process. An endocrine imbalance resulting from conditions like hypogonadism, Klinefelter syndrome, or pituitary disorders can disrupt hormone levels and reduce sperm production. Testicular defects, such as tumors, cryptorchidism, atrophic testes, abnormal sperm morphology, and low sperm count or motility, may arise due to genetic factors, structural...

During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.

Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...

The uterine or fallopian tubes function as the conduit through which oocytes travel from the ovaries to the uterus. Each fallopian tube measures approximately 10 to 13 cm long and is anatomically divided into the infundibulum, ampulla, isthmus, and interstitial part (or intramural segment). The infundibulum is characterized by its funnel shape and features extensions called fimbriae which reach towards the peritoneal cavity. These fimbriae play a critical role during ovulation as they extend...

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...