Deafness-infertility syndrome
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Deafness-infertility syndrome is a condition characterised by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.
الوصف
Deafness-infertility syndrome is a condition characterised by hearing loss and difficulty conceiving children (a condition called infertility). Affected individuals have moderate to severe sensorineural hearing loss, which is caused by abnormalities in the inner ear. The hearing loss is typically diagnosed in early childhood and does not worsen over time. Individuals with this condition produce sperm that have decreased movement (motility). As a result, they cannot conceive without assisted reproductive technologies.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
Chromosome 15q15.3 deletion syndrome
DIS
Sensorineural deafness and infertility
Sensorineural deafness and male infertility
Related patient information and medicines
Patient information leaflet
متلازمة تيرنر
متلازمة تيرنر is a genetic condition that only affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Although there is no cure, there are treatments that can help most girls with Turner syndrome lead relatively normal lives. What.
Patient information leaflet
العقم
Infertility means difficulty in conceiving naturally (becoming pregnant) despite having regular unprotected sex when not using contraception. There is no definite cut-off point to say when a couple is infertile. Many couples take several months to conceive. About 84 couples out of 100 conceive within a year of trying. About 92 couples out of 100.
Patient information leaflet
متلازمة القولون العصبي
IBS stands for irritable bowel syndrome, and it is a long-term chronic condition of the gut (bowel) that causes episodes of tummy (abdominal) cramps, bloating and either الإمساك or diarrhoea. IBS is a problem with how the bowel works. What is IBS. IBS stands for irritable bowel syndrome and may not cause any harm to your body but sometimes.
Patient information leaflet
متلازمة الأجسام المضادة للفوسفوليبيد
متلازمة الأجسام المضادة للفوسفوليبيد is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. What is antiphospholipid syndrome. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the.
Patient information leaflet
متلازمة شوغرن
Sjögren's syndrome is an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. Sjögren's syndrome is a condition that causes the tear and saliva glands to stop working. It causes dry.
Patient information leaflet
متلازمة كلاينفلتر
متلازمة كلاينفلتر is a genetic condition that only affects males. Affected males have an extra X chromosome. It is sometimes just called XXY. Between 1 in 500 and 1 in 1,000 boys are born with Klinefelter's syndrome (KS). Many people with KS are not diagnosed until they are adults, and it is believed that up to two thirds may never be.
قراءة إضافية ومراجع
- Deafness-infertility syndrome; MedlinePlus, National Library of Medicine.
- Avidan N, Tamary H, Dgany O, Cattan D, Pariente A, Thulliez M, Borot N, Moati L, Barthelme A, Shalmon L, Krasnov T, Ben-Asher E, Olender T, Khen M, Yaniv I, Zaizov R, Shalev H, Delaunay J, Fellous M, Lancet D, Beckmann JS. CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet. 2003 Jul;11(7):497-502. doi: 10.1038/sj.ejhg.5200991.
- Hildebrand MS, Avenarius MR, Smith RJH. CATSPER-Related Male Infertility - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 2009 Dec 3 [updated 2017 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK22925/
- Nishio SY, Usami SI. Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients. Sci Rep. 2022 Jan 12;12(1):634. doi: 10.1038/s41598-021-04688-5.
- Quill TA, Sugden SA, Rossi KL, Doolittle LK, Hammer RE, Garbers DL. Hyperactivated sperm motility driven by CatSper2 is required for fertilization. Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):14869-74. doi: 10.1073/pnas.2136654100. Epub 2003 Dec 1.
- Zhang Y, Malekpour M, Al-Madani N, Kahrizi K, Zanganeh M, Lohr NJ, Mohseni M, Mojahedi F, Daneshi A, Najmabadi H, Smith RJ. Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet. 2007 Apr;44(4):233-40. doi: 10.1136/jmg.2006.045765. Epub 2006 Nov 10.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
6 مارس 2025 | أحدث إصدار
1 Apr 2024 | نُشر في الأصل
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