Select a Community
Are you sure you want to trigger topic in your Anconeus AI algorithm?
You are done for today with this topic.
Would you like to start learning session with this topic items scheduled for future?
Androgen production
0%
0/0
Chromosomal aneuploidy
Ciliary function
Hypothalamic function
Uterine development
Select Answer to see Preferred Response
This patient who presents with infertility, recurrent sinus infections, and situs inversus (i.e., PMI on the right side of the chest) most likely has Kartagener syndrome. This disease is caused by a dynein arm mutation that results in ciliary immotility. Cilia are subcellular structures that are composed of an inner pair of microtubules surrounded by an outer ring of 9 microtubule doublets (9+2 arrangement). Cilia are bent and moved by axonemal dynein, a motor protein ATPase that attaches to the peripheral microtubules and slides them relative to the center pair. Kartagener syndrome, also known as immotile cilia disease, is caused by a defect in these dynein arms resulting in lack of ciliary movement. This disease presents with infertility (because Fallopian tubes cannot sweep the egg and sperm towards each other), bronchiectasis or recurrent sinusitis (because infected mucus particles cannot be removed), and situs inversus (because the left/right determination center during embryogenesis uses cilia as its sensory receptor). Inaba et al. performed a systemic review of Kartagener disease patients in Japanese patients. They found that the majority were diagnosed in adulthood and that inner dynein arm mutations were the most common cause in patients. Incorrect Answers: Answer 1: Androgen production is related to the pathogenesis of polycystic ovarian syndrome, which can also present with infertility; however, this disease would also present with insulin resistance, obesity, and hirsutism. Answer 2: Chromosomal aneuploidy is related to the pathogenesis of Turner syndrome, which can also present with infertility; however, this disease would also present with short stature, a webbed neck, and a broad (shield) chest. Answer 4: Hypothalamic function is related to the pathogenesis of a prolactin-producing adenoma, which can also present with infertility; however, this disease would also present with headache, bitemporal hemianopsia, ammenorhea, and galactorrhea. Answer 5: Uterine development is related to the pathogenesis of uterine agenesis, which can also present with infertility; however, this disease would also present with the lack of menarche and a short vagina. Bullet Summary: Kartagener syndrome is a ciliary motility disease that presents with infertility, recurrent sinus infections, and situs inversus.
0.0
(0)
Please Login to add comment