Zinner syndrome: A rare congenital cause of infertility.

Zinner syndrome is a rare congenital malformation characterized by cystic seminal vesicles and ejaculatory duct obstruction in association with ipsilateral renal agenesis. It appears to be frequently linked to infertility. However, recent advances in imaging, notably MRI, have led to an increase in the diagnosis of this pathology.

Pseudohypoaldosteronism Type 1b in a Saudi Female Infant Due to Homozygous Variant Gene Mutation in SCNN1A: A Case Report.

Pseudohypoaldosteronism type 1 (PHA1) is a rare, heterogeneous group of disorders characterized by resistance to aldosterone action. We report the case of a 17-day-old Saudi female infant who presented on the third day of life with persistent hyperkalemia, hyponatremia, and metabolic acidosis. Initial evaluation for congenital adrenal hyperplasia was unremarkable.

LAD-III, a Mild Phenotype Resulting From a Novel Variant of FERMT3 Gene: A Case Report.

Leukocyte adhesion deficiency-III (LAD-III) is a rare recessive autosomal disorder characterized by bleeding syndrome of Glanzmann-type and life-threatening infections. The main etiology of this condition is variations in the gene, which encodes kindlin-3, an integrin-binding protein. This protein is responsible for the activation of fibrinogen receptors and integrin-mediated hematopoietic cell adhesion.

Congenital Factor X-Riyadh (Stuart-Prower) Deficiency With Isolated Prothrombin Time Prolongation: A Case Report.

Factor X (FX) deficiency is an extremely rare autosomal recessive inherited coagulation defect. We report a case of congenital Factor X-Riyadh deficiency discovered during a routine workup before a dental procedure. During routine work-up for dental surgery, prothrombin time (PT) and the international normalized ratio (INR) were prolonged.

Accuracy of the Axillary Temperature Screening Compared to Core Rectal Temperature in Infants.

. To compare the sensitivity of axillary and rectal temperature in infants who presents to the emergency department with a recent history of fever. .