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In this study, canakinumab was effective in patients with YAOS, and thus clinical trial of canakinumab may be warranted as a therapeutic option for this disease. [6] Inheritance [ edit ] Yao Syndrome inheritance is classified as Multifactorial Inheritance . [7] References [ edit ] ^ "Yao syndrome" . www.uniprot.org . ... The American Journal of Medicine . 130 (3): 365.e13–365.e18. doi : 10.1016/j.amjmed.2016.09.028 .
Yao syndrome (formerly called NOD2 -associated autoinflammatory disease) is a disorder involving episodes of fever and abnormal inflammation affecting many parts of the body, particularly the skin, joints, and gastrointestinal system. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). In people with Yao syndrome, part of the immune system called the innate immune response is turned on (activated) abnormally, which causes fevers and inflammation-related damage to tissues and organs. Based on this process, Yao syndrome is classified as an autoinflammatory disease. Autoinflammatory diseases are distinct from autoimmune diseases; these two groups of diseases involve abnormalities in different parts of the immune system.
Clinical Features Yao et al. (2011) described 7 unrelated patients with apparent autoinflammatory disease with multisystem involvement. ... Yao et al. (2013) studied 22 patients with autoinflammatory disease, including the 7 previously reported by Yao et al. (2011). ... Twenty patients underwent skin biopsy, which showed spongiotic dermatitis in 7, granulomatous changes in 4, perivascular dermatitis in 4, and 'other dermatitis' in 4. ... Population Genetics Yao et al. (2015) stated that Yao syndrome is common relative to other autoinflammatory diseases in the American adult population, with an estimated population prevalence of 1 to 10 per 100,000. Molecular Genetics In 7 unrelated patients with multisystem autoinflammatory disease, 5 of whom were negative for mutation in the periodic fever-associated genes TNFRSF1A (191190) and/or MEFV (608107), Yao et al. (2011) identified heterozygosity for a known intronic variant in the NOD2 gene, IVS8+158 (605956.0007). ... In 22 patients with autoinflammatory disease, including the 7 patients previously studied by Yao et al. (2011), Yao et al. (2013) screened the NOD2 gene and found that all carried at least 1 variant: 21 had the IVS8+158 variant, and 8 had the R702W variant.
Idiopathic scrotal calcinosis Other names Idiopathic calcified nodules of the scrotum [1] Specialty Dermatology Idiopathic scrotal calcinosis is a cutaneous condition characterized by calcification of the skin resulting from the deposition of calcium and phosphorus occurring on the scrotum . [2] : 528 However, the levels of calcium and phosphate in the blood are normal. [3] Idiopathic scrotal calcinosis typically affects young males, with an onset between adolescence and early adulthood. [3] The scrotal calcinosis appears, without any symptoms, as yellowish nodules that range in size from 1 mm to several centimeters. [4] Contents 1 Presentation 2 Etiology 3 Diagnostic 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 See also 9 References Presentation [ edit ] Single or multiple hard, marble-like nodules of varying size affecting scrotal skin. ... "Scrotal Calcinosis". New England Journal of Medicine . 365 (7): 647. doi : 10.1056/NEJMicm1013803 . ... "Idiopathic scrotal calcinosis: a non-elucidated pathogenesis and its surgical treatment" . Reviews in Urology . 13 (2): 95–7. PMC 3176555 . PMID 21935341 . ^ Dubey S, Sharma R, Maheshwari V (2010).
Contents 1 Signs and symptoms 2 Cause 3 Diagnosis 4 Treatment 5 History 6 References 7 External links Signs and symptoms [ edit ] TEMPI Symptom T Telangiectasias E Elevated Erythropoietin and Erythrocytosis M Monoclonal gammopathy P Perinephric fluid collections I Intrapulmonary shunting The patients were all diagnosed at middle age. ... "TEMPI Syndrome – A Novel Multisystem Disease" . N Engl J Med . 365 (5): 475–477. doi : 10.1056/NEJMc1106670 .
TEMPI syndrome is a rare multi-systemic disease characterized by the presence of Telangiectasias, Erythrocytosis with elevated erythropoietin levels, Monoclonal gammopathy, Perinephric-fluid collections, and Intrapulmonary shunting. Epidemiology Less than 10 cases have been described in the literature. Clinical description TEMPI syndrome manifests in mid-adulthood with the development of telangiectasias mostly on the face, trunk and arms, as well as with erythrocytosis which may cause a red facies and occasionally, headaches. The increased serum erythropoietin levels precede the intrapulmonary shunting. The intrapulmonary shunts cause hypoxia which slowly progresses until the person needs continuous supplemental oxygen.
TEMPI syndrome is a newly discovered, multisystem condition named for 5 characteristics that affected individuals have: T elangiectasias , E rythrocytosis with elevated erythropoietin level , M onoclonal gammopathy , P erinephric-fluid collections (fluid around the kidney), and I ntrapulmonary shunting (when a region of the lungs is supplied with blood but with little or no ventilation). Signs and symptoms of TEMPI syndrome have appeared in mid-adulthood in all known affected individuals. The telangiectasias develop mostly on the face, trunk and arms. The intrapulmonary shunt causes hypoxia (not enough oxygen supply), which slowly progresses until the person needs continuous supplemental oxygen to support their breathing. Blood clots and bleeding in the brain have also been reported in some affected individuals. The cause of TEMPI syndrome is currently unknown. Treatment has reportedly been completely or partially successful with the medication bortezomib .
In the process of secretion, preprochymosin, comprising 381 amino acids, is processed by the signal peptidase into an inactive 365-amino acid prochymosin. At low pH, prochymosin undergoes autocatalytic cleavage of 42 N-terminal amino acids, yielding active chymosin.
It is a relatively uncommon variant of migraine in which the patient may experience aura , nausea , photophobia , hemiparesis , and other migraine symptoms , but does not experience headache . [1] It is generally classified as an event fulfilling the conditions of migraine with aura with no (or minimal) headache . [2] [3] It is sometimes distinguished from visual-only migraine aura without headache, also called ocular migraine . [4] Contents 1 Symptoms and misdiagnosis 2 Treatment 3 See also 4 References Symptoms and misdiagnosis [ edit ] Acephalgic migraines can occur in individuals of any age. [5] Some individuals, more commonly male, only experience acephalgic migraine, but frequently patients also experience migraine with headache. [6] Generally, the condition is more than twice as likely to occur in females than males. [7] Pediatric acephalgic migraines are listed along with other childhood periodic syndromes by W.A. ... Shevell as " migraine equivalents " (although not listed as such in the International Classification of Headache Disorders ), which can be good predictors of the future development of typical migraines. [8] [9] Individuals who experience acephalgic migraines in childhood are highly likely to develop typical migraines as they grow older. [10] Among women, incidents of acephalgic migraine increase during perimenopause . [7] Scintillating scotoma is the most common symptom [11] which usually happens concurrently with Expanding Fortification Spectra. [12] Also frequently reported is monocular blindness. [13] Acephalgic migraines typically do not persist more than a few hours and may last for as little as 15 seconds. [14] On rare occasions, they may continue for up to two days. [1] Acephalgic migraines may resemble transient ischemic attacks or, when longer in duration, stroke . [1] [15] The concurrence of other symptoms such as photophobia and nausea can help in determining the proper diagnosis. [15] Occasionally, patients with acephalgic migraine are misdiagnosed as suffering epilepsy with visual seizures , but the reverse misdiagnosis is more common. [16] Treatment [ edit ] The prevention and treatment of acephalgic migraine is broadly the same as for classical migraine , but the symptoms are usually less severe than those of classic migraine, so treatment is less likely to be required. ... "Pediatric migraine equivalents: occurrence and clinical features in practice". Pediatric Neurology . 26 (5): 365–8. doi : 10.1016/S0887-8994(01)00416-7 . ... McGraw-Hill Professional. p. 127. ISBN 0-07-105467-7 . ^ G. D. Schott (2007). "Exploring the visual hallucinations of migraine aura: the tacit contribution of illustration" . ... Clinical guide to comprehensive ophthalmology . Thieme. p. 532. ISBN 0-86577-766-7 . ^ Panayiotopoulos, Chrysostomos P. (2007).
A number sign (#) is used with this entry because of evidence that microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, can be caused by homozygous mutation in the LTBP2 gene (602091) on chromosome 14q24. Description Microspherophakia (MSP) is a rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. Lens dislocation or subluxation may occur, leading to defective accommodation (summary by Ben Yahia et al., 2009). Microspherophakia may occur in association with ectopia lentis and glaucoma, Marfan syndrome (MFS; 154700), and Weill-Marchesani syndrome (WMS; 277600). Clinical Features Ben Yahia et al. (2009) studied a sister and brother with isolated microspherophakia from a consanguineous Tunisian family.
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea is a rare, genetic, non-syndromic developmental defect of the eye disorder characterized by congenital megalocornea associated with spherophakia and/or ectopia lentis leading to pupillary block and secondary glaucoma. Additional features may include flat irides, iridodonesis, axial myopia, very deep anterior chambers, miotic, oval pupils without well-defined borders, ocular pain and irritability manifesting as conjunctival injection, corneal edema and central scarring, as well as a high arched palate.
. ^ Matsumoto T, Kuwabara N, Abe H, Fukuda Y, Suyama M, Fujii D, Kojima K, Futagawa S (1992), "Zahn infarct of the liver resulting from occlusive phlebitis in portal vein radicles", American Journal of Gastroenterology , 87 (3): 365–368, PMID 1539574 Reichelt HG (1985), "Partial Budd-Chiari syndrome with Zahn infarct of the liver in venous transmitted tumor thrombosis of a uterine cancer", Röntgen-Blätter (in German), 38 (11): 345–347, PMID 4081553 v t e Ischaemia and infarction Ischemia Location Brain ischemia Heart Large intestine Small intestine Infarction Types Anemic Hemorrhagic Location Heart Brain Spleen Limb Gangrene This article related to pathology is a stub .
ISBN 978-0-333-55313-8 . Retrieved 7 June 2018 . Comer, Ronald J. (2010). ... Archived from the original on 14 July 2017 . Retrieved 7 June 2018 . "FreeDictionary.com: definition of Hodophobia" . ... Archived from the original on 8 March 2012 . Retrieved 7 June 2018 . "CommonPhobias: Hodophobia" . Archived from the original on 2 October 2011 . Retrieved 7 June 2018 . "HealthCentral: Hodophobia" . ... Archived from the original on 2 October 2011 . Retrieved 7 June 2018 . * "Theravive: Specific Phobia DSM-5 300.29" .
., and Watanabe, T. 1966. " Phenazines as Disinfectants Against Bacterial Leaf Blight of the Rice Plant." Applied Microbiology 14(3):365-367. ^ Tisserat, N. "Ascochyta Leaf Blight of Turf" . ... Archived from the original on 30 October 2014. [1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] External links [ edit ] Media related to Blight at Wikimedia Commons The dictionary definition of blight at Wiktionary ^ Berg A. 1926. ... Canadian Journal of Microbiology; 19(7):837–845. ^ Johnson KB, Stockwell VO. 1998.
Contents 1 Cause 2 Predisposing factors 3 Clinical signs and diagnosis 4 Treatment and control 5 Vaccination 6 References 7 External links Cause [ edit ] Moraxella bovis is a Gram-negative rod-shaped aerobe .
You can help by adding to it . ( September 2017 ) Treatment [ edit ] AON is a rare disease and the natural history of the disease process is not well defined. [7] Unlike typical optic neuritis, there is no association with multiple sclerosis, but the visual prognosis for AON is worse than typical optic neuritis. ... American Journal of Ophthalmology . 94 (1): 11–7. doi : 10.1016/0002-9394(82)90184-2 . ... "Systemic Lupus Erythematosus". New England Journal of Medicine . 365 (22): 2110–21. doi : 10.1056/NEJMra1100359 .
To investigate whether rs1617640 was specifically associated with diabetic microvascular complications rather than with complications of type 2 diabetes per se, the authors replicated the study in 365 patients with type 1 diabetes (222100) with both PDR and ESRD, 500 with nephropathy and retinopathy without progression to PDR and ESRD, and 574 type 1 diabetic control patients without nephropathy or retinopathy, and found that the T allele of rs1617640 was significantly associated (p = 2.66 x 10(-8)) with PDR and ESRD; the results were confirmed in a third cohort involving 379 type 1 diabetics with both PDR and nephropathy and 141 diabetic controls (p = 0.021).
In a 2-stage genomewide scan of 71 multicase leprosy families (365 individuals) in Brazil, Miller et al. (2004) found suggestive evidence for linkage to chromosomes 6p21.32, 17q22, and 20p13.
In a 2-stage genomewide scan of 71 multicase leprosy families (365 individuals) in Brazil, Miller et al. (2004) found suggestive evidence for linkage to chromosomes 6p21.32, 17q22, and 20p13.
A number sign (#) is used with this entry because this form of susceptibility to leprosy (LPRS5) is associated with a polymorphism in the TLR1 gene (601194). A polymorphism in the TLR1 gene is also associated with protection against leprosy. See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping LPRS5 is associated with a polymorphism in the TLR1 gene, which Taguchi et al. (1996) mapped to chromosome 4p14. Molecular Genetics Schuring et al. (2009) studied association of an asn248-to-ser (N248S; 601194.0002) SNP in the TLR1 gene and leprosy in a Bangladeshi population consisting of 842 patients and 543 controls.
See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping In a study in a Vietnamese population, Mira et al. (2003) found significant evidence for a susceptibility gene for leprosy on chromosome region 6q25; maximum likelihood binomial (MLB) lod score was 4.31. They confirmed this by family-based association analysis in an independent panel of 208 Vietnamese leprosy simplex families (i.e., families with 2 unaffected parents and 1 affected child). Mira et al. (2003) confirmed the linkage of paucibacillary leprosy to 10p13 (LPRS1; 609888), as reported by Siddiqui et al. (2001). Their evidence suggested that the 6q25 locus is involved in leprosy of both the paucibacillary and multibacillary types.
See 609888 for a discussion of leprosy susceptibility in general and information on genetic heterogeneity. Mapping Zhang et al. (2009) performed a genomewide association study to identify leprosy susceptibility loci in 706 patients and 1,225 controls, all of whom were self-identified Han Chinese from eastern China. Diagnosis was made on the basis of the consensus of at least 2 dermatologists. Patients and controls reported an absence of M. tuberculosis and other chronic infections. Controls lacked a history of leprosy in themselves and their families, as well as autoimmune and systemic disorders.
A chronic infectious disease affecting primarily the skin and peripheral nervous system. Epidemiology Worldwide annual incidence is estimated at 250,000 cases, with a large majority in India and Brazil. Clinical description A wide clinical spectrum has been described from a polar tuberculoid (localized) form (TT) to a polar lepromatous (disseminated) one (LL). Borderline forms exist: borderline tuberculoid, borderline borderline and borderline lepromatous (BT, BB, BL). Tuberculoid leprosy (TLep) or paucibacillary form includes TT and BT and lepromatous leprosy (LLep) or multibacillary form includes LL, BL and BB.
The American Journal of Tropical Medicine and Hygiene . 95 (3): 522–7. doi : 10.4269/ajtmh.16-0076 . PMC 5014252 . ... Advances in Immunology . 105 : 1–24. doi : 10.1016/S0065-2776(10)05001-7 . ISBN 9780123813022 . PMID 20510728 . ^ CDC (2018-01-26). ... Cochrane Database of Systematic Reviews . 7 : CD012235. doi : 10.1002/14651858.CD012235.pub2 . ... Indian Journal of Medical Microbiology . 20 (4): 174–7. PMID 17657065 . Archived from the original on 27 September 2007 . ... Actas Dermo-Sifiliográficas (English Edition) . 104 (7): 554–563. doi : 10.1016/j.adengl.2012.03.028 .
Hansen's disease (also known as leprosy) is a rare bacterial infection that affects the skin, nerves and mucous membranes . After exposure, it may take anywhere from 2 to 10 years to develop features of the condition. Once present, common signs and symptoms include skin lesions ; muscle weakness or paralysis; eye problems that may lead to blindness; nosebleeds; severe pain; and/or numbness in the hands, feet, arms and legs. Hansen's disease is caused by the bacterium Mycobacterium leprae; however, the way in which the bacterium is transmitted (spread) is poorly understood. It appears that only about 5% of people are susceptible to the condition.
Mapping In a large 5-generation family (CM-13-OH) with CMAVM, Amyere et al. (2017) performed genomewide linkage analysis and detected 2 peaks with maximum lod scores of 2.5 and 2.8, on chromosomes 5 and 7, spanning 74.2 Mb and 59.1 Mb, respectively. Molecular Genetics In an 8-year-old white boy with multiple capillary malformations (CMs), who was negative for mutation in the RASA1 gene (139150), Yu et al. (2017) performed whole-exome sequencing (WES) and identified heterozygosity for a de novo missense mutation in the EPHB4 gene (D802G; 600011.0003). From a cohort of 365 index patients with CMAVM, Amyere et al. (2017) identified heterozygosity for 47 distinct mutations in the EPHB4 gene in 54 probands (see, e.g., 600011.0004-600011.0008).
A congenital vascular malformation characterized by dilation of the embryonic precursor of the vein of Galen. It is a sporadic lesion that occurs during embryogenesis. Epidemiology The lesion is rare, with less than 800 cases (representing less than 10% of all cerebral arteriovenous malformations) reported so far. Vein of Galen aneurysmal malformation (VGAM) is more frequent in males than in females. Clinical description Cardiac insufficiency of variable severity is the principle manifestation that leads to detection of the malformation in newborns. It is sometimes associated with respiratory problems and/or hepatic, renal, and/or cerebral (encephalomalacia) manifestations, the main concern for therapeutic management.
Vein of Galen aneurysm is a rare form of arteriovenous malformation in which the embryonic precursor to the vein of Galen, a vein at the base of the brain, dilates causing too much blood to rush to the heart. This can lead to rapid heart failure. Other features may include increased head circumference resulting from hydrocephalus, unusually prominent veins on the face and scalp, developmental delay, persistent headache, and other neurological findings. Vein of Galen aneurysm is often recognized on an ultrasound late in pregnancy. In other cases, it is diagnosed after birth. Although the exact cause remains unknown, this condition appears to result from a defect in early fetal development. Treatment is aimed at decreasing the blood flow through the malformation while maximizing the blood supply to the brain.
Vein of Galen aneurysmal malformations Axial image from computerized tomography angiogram showing arteriovenous communication in vein of Galen malformation Vein of Galen aneurysmal malformations (VGAM) and Vein of Galen aneurysmal dilations (VGAD) are the most frequent arteriovenous malformations in infants and fetuses. [1] [2] VGAM consist of a tangled mass of dilated vessels supplied by an enlarged artery. [3] The malformation increases greatly in size with age, although the mechanism of the increase is unknown. [3] Dilation of the great cerebral vein of Galen is a secondary result of the force of arterial blood either directly from an artery via an arteriovenous fistula or by way of a tributary vein that receives the blood directly from an artery. [1] [3] There is usually a venous anomaly downstream from the draining vein that, together with the high blood flow into the great cerebral vein of Galen causes its dilation. [4] The right sided cardiac chambers and pulmonary arteries also develop mild to severe dilation. [5] Contents 1 Genetics 2 Signs and symptoms 2.1 Associated conditions 3 Diagnosis 3.1 Classification 4 Treatment 4.1 Surgical 4.2 Medical Care 5 Prognosis 6 Society and culture 7 References 8 External links Genetics [ edit ] 10% of vein of Galen aneurysmal malformations are associated with deleterious heterozygous mutations of EPHB4 [6] Another study found that 30% of cases were associated with mutations in EPH receptor B4 ( EPHB4 ) gene. [7] Signs and symptoms [ edit ] 3D reconstruction of CTA showing vein of Galen malformation. ... Annals of Neurology . 47 (6): 748–755. doi : 10.1002/1531-8249(200006)47:6<748::AID-ANA7>3.0.CO;2-7 . PMID 10852540 . External links [ edit ] Classification D ICD - 10 : Q28.2 MeSH : C536535 C536535, C536535 External resources eMedicine : article/1179888 Orphanet : 1053 v t e Congenital vascular defects / Vascular malformation Great arteries / other arteries Aorta Patent ductus arteriosus Coarctation of the aorta Interrupted aortic arch Double aortic arch Right-sided aortic arch Overriding aorta Aneurysm of sinus of Valsalva Vascular ring Pulmonary artery Pulmonary atresia Stenosis of pulmonary artery Subclavian artery Aberrant subclavian artery Umbilical artery Single umbilical artery Great veins Superior / inferior vena cava Congenital stenosis of vena cava Persistent left superior vena cava Pulmonary vein Anomalous pulmonary venous connection ( Total , Partial ) Scimitar syndrome Arteriovenous malformation Cerebral arteriovenous malformation
. ^ "Dorlands Medical Dictionary:actinobacillosis" . [ permanent dead link ] ^ " Actinobacillosis - Pig reviewed and published by Wikivet" . Retrieved 7 October 2011 . ^ Layman, Quinci D.; Rezabek, Grant B.; Ramachandran, Akhilesh; Love, Brenda C.; Confer, Anthony W. (2014). ... Journal of Veterinary Diagnostic Investigation . 26 (3): 365–375. doi : 10.1177/1040638714531766 .
The condition appears to have been first described in the American medical literature by Samia Temtamy and John Rogers in 1976. [5] [6] Michael Cohen described it in 1979. [7] Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition. [8] As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undiagnosed. ... Contents 1 Signs and symptoms 1.1 Orthopaedic features 2 Genetics 3 Diagnosis 3.1 Differential diagnosis 3.2 Classification 4 Treatment 5 Notable cases 6 See also 7 References 8 External links Signs and symptoms [ edit ] Proteus syndrome causes an overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. ... The New England Journal of Medicine . 365 (7): 661–3. doi : 10.1056/NEJMe1107384 . ... "A mosaic activating mutation in AKT1 associated with the Proteus syndrome" . N Engl J Med . 365 (7): 611–9. doi : 10.1056/NEJMoa1104017 . ... Am. J. Med. Genet. A . 130A (2): 123–7. doi : 10.1002/ajmg.a.30335 . PMID 15372512 .
A number sign (#) is used with this entry because of evidence that xanthinuria type II (XAN2) is caused by homozygous or compound heterozygous mutation in the MOCOS gene (613274) on chromosome 18q12. One patient with a heterozygous mutation has been reported. Description Xanthinuria type II is an autosomal recessive inborn error of metabolism resulting from a defect in the synthesis of the molybdenum cofactor, which is necessary for the 2 enzymes that degrade xanthine: XDH (607633) and AOX1 (602841). Most individuals with type II xanthinuria are asymptomatic, but some develop urinary tract calculi, acute renal failure, or myositis due to tissue deposition of xanthine. Laboratory studies show increased serum and urinary hypoxanthine and xanthine and decreased serum and urinary uric acid (summary by Ichida et al., 2001). Two clinically similar but distinct forms of xanthinuria are recognized.
Type II xanthinuria, a type of classical xanthinuria (see this term), is a rare autosomal recessive disorder of purine metabolism (see this term) characterized by the deficiency of both xanthine dehydrogenase and aldehyde oxidase, leading to the formation of urinary xanthine urolithiasis and leading, in some patients, to kidney failure. Other less common manifestations include arthropathy, myopathy and duodenal ulcer, while some patients remain asymptomatic.
They detected microdeletions in 10 of the men; the YRRM1 gene was involved in only 3 of them. The remaining 7 patients showed deletion between DYS7C and DYS239 in common, indicating the presence of at least 1 additional gene, deletion of which causes azoospermia. ... Three patients showed a microdeletion in proximal Yq11, 3 had a microdeletion in interval D13-D16, and 7 had a microdeletion in D20-D22; among patients within each group, the extension of deleted intervals was the same. ... Pryor et al. (1997) evaluated the Y chromosomes of 200 consecutive infertile men and 200 normal men and identified microdeletions in 14 infertile men (7%) and 4 normal men (2%). The size and location of the deletions varied and did not correlate with the severity of spermatogenic failure or testicular pathology: for example, of 2 patients with SCO type I, 1 had a deletion in AZFa whereas the other had an intact AZFa region but a deletion of AZFb and AZFc; and another patient with a deletion in AZFc had spermatogenic arrest. ... Significantly, a high frequency of microdeletions (7%) was found in patients with known causes of infertility and a 46,XY chromosome complement. ... Deletions of the AZFc region were detected in 17% of individuals with idiopathic azoo/cryptozoospermia and in 7% of individuals with nonidiopathic azoo/cryptozoospermia.
Male sterility due to chromosome Y deletion is characterized by a severe deficiency of spermatogenesis. Chromosome Y deletions are a frequent genetic cause of male infertility. Epidemiology Estimated prevalence is 1/2500. Etiology Five to 10% of cases of azoospermia (absent sperm) or severe secretory-type oligospermia (<1 million spermatozoa/mL semen) are associated with microdeletions in the euchromatic portion of the Y-chromosome long arm, at the AZF locus (Azoospermia Factor). Several subregions are distinguished in the AZF locus. In this region, the structure of the Y-chromosome is rich in repeated palindromes and recombination between two flanking sequences sharing a high degree of homology leads to various deletions: 1) AZFa deletions (recombination between the sequences HERV15yq1 and HERV15yq2 ); the rarest - ii) AZFb or P5/proximal-P1 deletions, iii) AZFb+c deletions, of which two types are distinguished: P5/distal-P1 or P4/distal-P1 and iv) AZFc deletions caused by recombination between palindromes b2 and b4. Diagnostic methods Diagnosis is made on the basis of azoospermia or oligozoospermia in otherwise healthy males after exclusion of other causes of infertility.
A number sign (#) is used with this entry because Sertoli cell-only (SCO) syndrome has been found to be associated with interstitial deletions in the 'azoospermia factor' (AZF) region on the long arm of the Y chromosome, particularly deletions of the AZFa region, which includes the ubiquitin-specific protease 9 gene (USP9Y; 400005), the DEAD/H box 3 gene (DBY; 400010), and the ubiquitously transcribed tetratricopeptide repeat gene (UTY; 400009). Description In the evaluation of male infertility, the Sertoli cell-only (SCO) syndrome is diagnosed on testicular biopsy when either no germ cells are visible in any seminiferous tubules (SCO type I) or germ cells are present in a minority of tubules (SCO type II). It is believed that the latter variant arises from a failure to complete differentiation and maturation of spermatocytes and spermatids, leading to degeneration of germ cells within most tubules (Sargent et al., 1999). Another, possibly X-linked, form of Sertoli cell-only syndrome has also been reported (305700). Heterogeneity of Spermatogenic Failure See 415000 for a general discussion of the AZF region of the Y chromosome and Y-linked nonobstructive spermatogenic failure.
