女性におけるファブリー病:未だに隠されているか,見過ごされている診断?

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...

Female infertility is defined as the inability to conceive after a year of regular, unprotected intercourse and affects about 10–15% of couples worldwide. The primary cause of female infertility is ovulatory disorders, which hinder the release of eggs. These disorders can be classified as hypothalamic amenorrhea, polycystic ovarian syndrome (PCOS), premature ovarian failure, and hyperprolactinemic anovulation disorders.
Endometriosis, a condition characterized by abnormal growth of...

Endoscopic Ultrasound (EUS) and FibroScan are valuable diagnostic tools in gastroenterology and hepatology, each with specific applications and techniques.
Endoscopic Ultrasound (EUS):

Overview

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

The female reproductive system can be affected by several disorders, including Premenstrual Syndrome (PMS), Premenstrual Dysphoric Disorder (PMDD), endometriosis, and various forms of cancer. PMS and PMDD are cyclical conditions that cause physical and emotional distress, with symptoms that include edema, mood swings, and food cravings. PMDD is a more severe form of PMS characterized by increased symptom severity that peaks during the luteal phase and tends to improve or resolve shortly after...