MCID: 48X003
MIFTS: 39

48,xxyy Syndrome

Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for 48,xxyy Syndrome

MalaCards integrated aliases for 48,xxyy Syndrome:

Name: 48,xxyy Syndrome 19 42 58 71
Xxyy Syndrome 19 42 75
48,xxyy Variant of Klinefelter's Syndrome 19
48,xxyy Klinefelter Syndrome 19
48, Xxyy Syndrome 75
48,xxyy 75

Characteristics:


Prevelance:

1-9/100000 (Europe) 58

Age Of Onset:

Adolescent,Childhood,Infancy,Neonatal 58

Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for 48,xxyy Syndrome

MedlinePlus Genetics: 42 48,XXYY syndrome is a chromosomal condition that causes an inability to have children (infertility), developmental and behavioral disorders, and other health problems.48,XXYY disrupts sexual development, though affected individuals are typically assigned male gender at birth. Adolescents and adults with this condition usually have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development. A shortage of testosterone during puberty can lead to reduced facial and body hair, poor muscle development, low energy levels, and an increased risk of breast enlargement (gynecomastia). Because their testes do not function normally, individuals with 48,XXYY syndrome are infertile.48,XXYY syndrome can affect other parts of the body as well. Affected individuals are often taller than their peers with an average adult height of 6 feet 4 inches (193 cm). They tend to develop a tremor that typically starts in adolescence and increases with age. Dental problems are frequently seen with this condition and include delayed appearance of the primary (baby) or secondary (adult) teeth, thin tooth enamel, crowded or misaligned teeth, and multiple cavities. As people with 48,XXYY get older, they may develop a narrowing of the blood vessels in the legs, called peripheral vascular disease. Peripheral vascular disease can cause skin ulcers to form. Affected individuals are also at risk of developing a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the legs. Additionally, individuals with 48,XXYY syndrome may have flat feet (pes planus), elbow abnormalities, abnormal fusion of certain bones in the forearm (radioulnar synostosis), allergies, asthma, type 2 diabetes, seizures, and congenital heart defects.Most individuals with 48,XXYY syndrome have an IQ that ranges from 70-80 and some degree of difficulty with speech and language development. Some children with 48,XXYY syndrome have delayed development of motor skills such as sitting, standing, and walking that can lead to poor coordination. Learning disabilities, especially those that are language-based, are very common in this disorder. People with 48,XXYY seem to perform better at tasks focused on math, visual-spatial skills such as puzzles, and memorization of locations or directions. Affected individuals have higher than average rates of behavioral disorders, such as attention-deficit/hyperactivity disorder (ADHD); mood disorders, including anxiety and bipolar disorder; and autism spectrum disorder, which affects communication and social interaction.

MalaCards based summary: 48,xxyy Syndrome, also known as xxyy syndrome, is related to partial deletion of y and 48,xyyy. The drugs Chlorhexidine and Mycophenolic acid have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and breast, and related phenotypes are intellectual disability and global developmental delay

GARD: 19 48,XXYY syndrome is a chromosomal condition, characterized by the presence of an extra X and Y chromosome in males, that causes medical and behavioral problems. 48,XXYY can be considered a variant of Klinefelter syndrome. Individuals with 48,XXYY are usually considerably tall with small testes that do not function normally leading to infertility. In addition, affected individuals have behavioral problems such as anxiety, aggressiveness, problems communicating, hyperactivity, depression, as well as general learning disabilities and intellectual impairment. Other medical probelms can include congenital heart defects, bone abnormalities, tremor, obesity, type 2 diabetes and/or respiratory problems.

Orphanet: 58 A rare sex chromosome number anomaly disorder characterized, genetically, by the presence of an extra X and Y chromosome in males and, clinically, by tall stature, dysfunctional testes associated with infertility and insufficient testosterone production, cognitive, affective and social functioning impairments, global developmental delay, and an increased risk of congenital malformations.

Wikipedia: 75 XXYY syndrome is a sex chromosome anomaly in which males have 2 extra chromosomes, one X and one Y... more...

Related Diseases for 48,xxyy Syndrome

Diseases related to 48,xxyy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 74)
# Related Disease Score Top Affiliating Genes
1 partial deletion of y 11.1
2 48,xyyy 10.8
3 hypogonadotropic hypogonadism 10.5
4 hypogonadism 10.4
5 49, xxxxy syndrome 10.3
6 premature menopause 10.3
7 tremor 10.3
8 testicular germ cell tumor 10.3
9 testicular cancer 10.3
10 seminoma 10.3
11 malaria, mild 10.2
12 turner syndrome 10.2
13 attention deficit-hyperactivity disorder 10.2
14 gynecomastia 10.2
15 azoospermia 10.2
16 47 xxx syndrome 10.2
17 central precocious puberty 10.2
18 precocious puberty 10.2
19 nonsyndromic hearing loss 10.2
20 camptodactyly-arthropathy-coxa vara-pericarditis syndrome 10.1
21 insulin-like growth factor i 10.1
22 gastroesophageal reflux 10.0
23 tetralogy of fallot 10.0
24 corpus callosum, agenesis of 10.0
25 hypouricemia, renal, 1 10.0
26 taurodontism 10.0
27 heart disease 10.0
28 myopia 10.0
29 peripheral retinal degeneration 10.0
30 male infertility 10.0
31 thrombocytopenia 10.0
32 interstitial lung disease 10.0
33 mood disorder 10.0
34 essential tremor 10.0
35 infertility 10.0
36 peripheral nervous system disease 10.0
37 retinal degeneration 10.0
38 polyhydramnios 10.0
39 lung disease 10.0
40 fundus dystrophy 10.0
41 neuropathy 10.0
42 learning disability 10.0
43 cleft lip 10.0
44 pathologic nystagmus 10.0
45 hypoglycemia 10.0
46 colpocephaly 10.0
47 inherited retinal disorder 10.0
48 duane retraction syndrome 1 10.0
49 capillary malformations, congenital 10.0
50 nephrolithiasis, calcium oxalate 10.0

Graphical network of the top 20 diseases related to 48,xxyy Syndrome:



Diseases related to 48,xxyy Syndrome

Symptoms & Phenotypes for 48,xxyy Syndrome

Human phenotypes related to 48,xxyy Syndrome:

58 30 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001263
3 azoospermia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000027
4 decreased testicular size 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0008734
5 infertility 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000789
6 hypergonadotropic hypogonadism 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000815
7 depression 58 30 Frequent (33%) Frequent (79-30%)
HP:0000716
8 tremor 58 30 Frequent (33%) Frequent (79-30%)
HP:0001337
9 constipation 58 30 Frequent (33%) Frequent (79-30%)
HP:0002019
10 hypotonia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001252
11 hypertelorism 58 30 Frequent (33%) Frequent (79-30%)
HP:0000316
12 chronic otitis media 58 30 Frequent (33%) Frequent (79-30%)
HP:0000389
13 open bite 58 30 Frequent (33%) Frequent (79-30%)
HP:0010807
14 recurrent respiratory infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0002205
15 carious teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000670
16 pes planus 58 30 Frequent (33%) Frequent (79-30%)
HP:0001763
17 feeding difficulties in infancy 58 30 Frequent (33%) Frequent (79-30%)
HP:0008872
18 thick lower lip vermilion 58 30 Frequent (33%) Frequent (79-30%)
HP:0000179
19 strabismus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000486
20 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
HP:0007018
21 anxiety 58 30 Frequent (33%) Frequent (79-30%)
HP:0000739
22 obesity 58 30 Frequent (33%) Frequent (79-30%)
HP:0001513
23 epicanthus 58 30 Frequent (33%) Frequent (79-30%)
HP:0000286
24 asthma 58 30 Frequent (33%) Frequent (79-30%)
HP:0002099
25 upslanted palpebral fissure 58 30 Frequent (33%) Frequent (79-30%)
HP:0000582
26 clinodactyly of the 5th finger 58 30 Frequent (33%) Frequent (79-30%)
HP:0004209
27 delayed eruption of teeth 58 30 Frequent (33%) Frequent (79-30%)
HP:0000684
28 taurodontia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000679
29 flat occiput 58 30 Frequent (33%) Frequent (79-30%)
HP:0005469
30 joint hyperflexibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0005692
31 blepharophimosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000581
32 radioulnar synostosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0002974
33 gynecomastia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000771
34 tall stature 58 30 Frequent (33%) Frequent (79-30%)
HP:0000098
35 elbow dislocation 58 30 Frequent (33%) Frequent (79-30%)
HP:0003042
36 abnormal dental enamel morphology 30 Frequent (33%) HP:0000682
37 abnormal shoulder morphology 30 Frequent (33%) HP:0003043
38 seizure 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001250
39 scoliosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002650
40 nystagmus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000639
41 ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001251
42 dysarthria 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001260
43 type ii diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005978
44 inguinal hernia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000023
45 hip dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001385
46 gastroesophageal reflux 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002020
47 cleft palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000175
48 cryptorchidism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000028
49 autism 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000717
50 facial asymmetry 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000324

Drugs & Therapeutics for 48,xxyy Syndrome

Drugs for 48,xxyy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 384)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
2
Mycophenolic acid Approved, Investigational Phase 4 24280-93-1 446541
3
Cobicistat Approved Phase 4 1004316-88-4 24950485 25151504
4
Rilpivirine Approved Phase 4 500287-72-9 6451164
5
Elvitegravir Approved Phase 4 697761-98-1 23083982 5277135
6
Amantadine Approved Phase 4 768-94-5 2130
7
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
8
Rifabutin Approved, Investigational Phase 4 72559-06-9 46783538 6323490
9
Benzocaine Approved, Investigational Phase 4 1994-09-7, 94-09-7 2337
10
Tannic acid Approved Phase 4 1401-55-4 16129878 16129778
11
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
12
Efavirenz Approved, Investigational Phase 4 154598-52-4 64139
13
Abacavir Approved, Investigational Phase 4 136470-78-5, 188062-50-2 441300
14
Zidovudine Approved Phase 4 30516-87-1 35370
15
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
16
Peginterferon alfa-2b Approved Phase 4 215647-85-1, 99210-65-8
17
Nevirapine Approved Phase 4 129618-40-2 4463
18
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
19
Cefuroxime Approved Phase 4 55268-75-2 5479529
20
Cefazolin Approved Phase 4 25953-19-9 33255
21
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
22
Insulin aspart Approved Phase 4 116094-23-6 16132418
23
Insulin lispro Approved Phase 4 133107-64-9 16132438
24
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
25
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
26
Acetaminophen Approved Phase 4 103-90-2 1983
27
Etravirine Approved Phase 4 269055-15-4 193962
28
Metformin Approved Phase 4 1115-70-4, 657-24-9 4091
29
Glimepiride Approved Phase 4 93479-97-1 3476
30
Saxagliptin Approved Phase 4 361442-04-8 11243969
31
Bismuth subsalicylate Approved, Vet_approved Phase 4 14882-18-9 53629521 16682734
32
Amprenavir Approved, Investigational Phase 4 161814-49-9 65016
33
Nelfinavir Approved Phase 4 159989-64-7 64143
34
Stavudine Approved, Investigational Phase 4 3056-17-5 18283
35
Indinavir Approved Phase 4 150378-17-9 5362440
36
Didanosine Approved Phase 4 69655-05-6 50599
37
Atorvastatin Approved Phase 4 134523-00-5 60823
38
Omalizumab Approved, Investigational Phase 4 242138-07-4
39
Interferon alfacon-1 Approved, Investigational Phase 4 118390-30-0
40
Rosiglitazone Approved, Investigational Phase 4 122320-73-4, 155141-29-0 77999
41
Hydroxyurea Approved Phase 4 127-07-1 3657
42
Pioglitazone Approved, Investigational Phase 4 111025-46-8 4829
43
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
44
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
45
Orphenadrine Approved Phase 4 83-98-7 4601
46
Tobramycin Approved, Investigational Phase 4 32986-56-4 36294
47
Framycetin Approved, Experimental, Vet_approved Phase 4 1404-04-2, 119-04-0, 3947-65-7 413349 8378
48
Fluocinolone acetonide Approved, Investigational, Vet_approved Phase 4 67-73-2 6215
49
Pamidronic acid Approved Phase 4 40391-99-9 4674
50
Golimumab Approved Phase 4 476181-74-5

Interventional clinical trials:

(show top 50) (show all 337)
# Name Status NCT ID Phase Drugs
1 A Phase IV Multicenter Study of the Efficacy and Safety of 48-Week Induction Treatment With TRIZIVIR (Abacavir 300 Mg/Lamivudine 150 Mg/Zidovudine 300 Mg Combination Tablet BID) With Efavirenz (600 Mg QD) Followed by 48-Week Randomized, Open-Label, Maintenance Treatment With TRIZIVIR With or Without Efavirenz in HIV-1 Infected Antiretroviral Therapy Naive Subjects Unknown status NCT00011895 Phase 4 Abacavir sulfate, Lamivudine and Zidovudine;Efavirenz
2 Chlorhexidine Gluconate for Prevention of Ventilator Associated Pneumonia in a Pediatric Intensive Care Unit. Unknown status NCT01883596 Phase 4 0.12% chlorhexidine solution;Placebo
3 An Open Label, Randomized, Parallel Design Estimation Pilot Study to Compare the Effectiveness of 36 vs 48 Wks PegIntron Plus Ribavirin Treatment for HCV Patients Without Rapid Virologic Response(RVR) But With Undetectable HCV RNA at wk 8 Unknown status NCT01683786 Phase 4 Pegintron + Riba
4 Multi-center, Randomized, Open Label, Comparative, Phase IV Study to Evaluate the Efficacy and Safety of a Combination of Mycophenolate Mofetil and Corticosteroid for 48 Weeks in Advanced IgA Nephropathy Unknown status NCT02981212 Phase 4 Mycophenolate Mofetil;ACE inhibitor;Corticosteroid;ARB
5 Open Label Phase 4, 48 Week Pilot Study of the Antiviral Efficacy and Tolerability of the Combination of Isentress™ and ReyatazTM When Substituted for Current Antiviral Regimen in Patients With Viral Suppression But Who Are Experiencing Adverse Events Related to Their Current Antiviral Regimen. Unknown status NCT00751153 Phase 4 Raltegravir and Atazanavir
6 An Open-Label, Multicenter Study to Evaluate the Efficacy and Safety of a Fixed-Dose Combination of Abacavir 600 mg/Lamivudine 300 mg Once-Daily in Combination With Atazanavir 300 mg + Ritonavir 100 mg Once-Daily in Antiretroviral-Naïve HIV-1 Infected Subjects With Continuing Evaluation of Abacavir/Lamivudine Plus Atazanavir 400 mg for Maintenance Over an Additional 48 Weeks Unknown status NCT00426296 Phase 4 atazanavir (Reyataz);ritonavir (Norvir)
7 Cost-effectiveness of Different Antiretroviral Treatment in Patients HIV Naive. Randomized Clinical, Not Masked, Trial Comparing DRVr3TC, ABC3TC (Kivexa) RPV, or EVG COBI FTC TDF (Stribild) for 48 Weeks Unknown status NCT02470650 Phase 4 elvitegravir/cobicistat/emtricitabine/tenofovir;Darunavir;abacavir/lamivudine;Ritonavir;Lamivudine;rilpivirine
8 Randomized, Multi-Center, Partially Placebo-Controlled Phase IV-Study to Compare Efficacy and Tolerability of 48-Week Combined Therapy With Peginterferon Alfa-2a, Ribavirin and Amantadine Sulphate Versus Placebo in Untreated Patients With Chronic Hepatitis C Virus-Genotype-1-Infection Unknown status NCT00127777 Phase 4 Amantadine sulphate (in addition to standard treatment)
9 Open, Randomized and Multicenter Phase IV Study to Compare the Efficacy and Safety of Two Different Treatments Duration 24 Versus 48 Weeks in Chronic Hepatitis C Genotypes 2 and/or 3 co-Infected HIV-HCV Patients. Unknown status NCT00611819 Phase 4 Peg interferon + Ribavirin
10 A Prospective, Randomized, Multicenter, Open-label Study Evaluating HBeAg Seroconversion in HBeAg Positive CHB Patients on Treatment With NA Switched to Combined Therapy With Peginterferon Alfa-2a and NA for 48 Weeks Unknown status NCT02474316 Phase 4 Peginterferon alfa-2a;nucleos(t)ide analgoue
11 Efficacy and Safety of an Initial Regimen Raltegravir (RAL) + Lamivudine/Abacavir Fixed-Dose Combination (3TC/ABC FDC) for 48 Weeks in ART-naïve, HIV/TB Co-Infected Adult Subjects Receiving Rifabutin-containing, 1-line Anti-TB Therapy Unknown status NCT01059422 Phase 4 Raltegravir; Abacavir/Lamivudine
12 A Phase IV 48 Week, Open Label, Pilot Study of Darunavir Boosted by Cobicistat in Combination With Rilpivirine to Treat HIV+ Naïve Subjects (PREZENT) Unknown status NCT02404233 Phase 4 darunavir/cobicistat;rilpivirine
13 A Phase IV, Open Label, Multi-Center, Study of Maintenance Intravitreous Injections of Macugen (Pegaptanib Sodium) Given Every 6 Weeks for 48 Weeks in Subjects With Subfoveal Neovascular Age-Related Macular Degeneration (AMD) Initially Treated With a Modality Resulting in Maculopathy Improvement Unknown status NCT00354445 Phase 4 pegaptanib sodium (Macugen)
14 Long-term Follow up of Patients With Relapsing-remitting Multiple Sclerosis Enrolled in the Multicenter, Single-arm, Open-label Biobank Study (CFTY720DDE01), to Investigate Changes in Biomarkers After 48 Months of Treatment With 0.5 mg Fingolimod (FTY720) Completed NCT02720107 Phase 4 fingolimod
15 A Phase IV, Prospective, Multicenter , Randomized Open Label, 48 Weeks Study to Evaluate the Antiretroviral Efficacy and Safety of Atazanavir or Darunavir,Each in Combination With a Fixed Dose of Tenofovir Emtricitabine in HIV-1-infected Treatment-naïve Subjects With CD4counts Below 200 µL. Completed NCT01928407 Phase 4 DARUNAVIR;ATAZANAVIR
16 24 Versus 48 Hours of First Generation or Second Generation Cephalosporin as Prophylaxis to Reduce Surgical Site Infection in Adult Cardiac Surgery Patients: a Randomized Controlled Trial Completed NCT04303390 Phase 4 Cefuroxime;Cefazolin
17 A Comparison of the Efficacy Beyond 48 Hours of Insulin Aspart (Novolog) and Lispro (Humalog) in Insulin Pumps Completed NCT00461331 Phase 4 Insulin Aspart;Insulin Lispro
18 Randomized, Multi-Center, Phase IV, Comparative Study to Assess the Efficacy and Safety of Combined Peg-Interferon Alpha-2a (40 kD) With Ribavirin Combined Therapy for 48 or 72 Weeks of Treatment and 24 Weeks of Follow-Up in Patients With Chronic Hepatitis C, Genotype 1, Co-Infected With Human Immunodeficiency Virus Completed NCT02761629 Phase 4 Peg-Interferon Alpha-2A;Ribavirin
19 An Open-label Trial of 48-week Peginterferon Alfa-2a (PEGASYS) to Assess the Sustained Response of Chronic Hepatitis B Patients With HBeAg Seroconversion on Nucleot(s)Ide Analogue Therapy Completed NCT02068365 Phase 4 Pegyinterferon-alfa-2a
20 A Randomised, Controlled, Open-Label, 48-Week, Study To Asses Differences in Changes In Plasma Lipid Profile Between Patients On Saquinavir/Ritonavir Or Atazanavir/Ritonavir In Combination With Tenofovir Disoproxil Fumarate And Emtricitabine As A First-line Regimen. Completed NCT00389402 Phase 4 saquinavir/ritonavir;atazanavir/ritonavir
21 A Double-Blind Randomized Clinical Trial Comparing the Safety and Antiviral Activity of 48-week Clevudine and Adefovir Dipivoxil in HBeAg(-) Chronic Hepatitis B With Compensated Liver Function Completed NCT00641082 Phase 4 Clevudine;Adefovir dipivoxil
22 Efficacy and Safety of Saxagliptin and Glimepiride in Chinese Patients With Type 2 Diabetes Controlled Inadequately With Metformin Monotherapy (SPECIFY Study) : a 48-week, Multi-center, Randomized, Open-label Trial Completed NCT02280486 Phase 4 Saxagliptin;Glimepiride
23 Randomized Trial of 24 or 48 Weeks of Peginterferon Alfa-2a Plus Ribavirin for Chronic Hepatitis C Virus Genotype 1-infected Patients in Taiwan Completed NCT00495131 Phase 4 Pegylated interferon alfa-2a plus ribavirin
24 A Randomized, Controlled, Open-Label, 48-Week Study of Continuing Successfully Suppressive Treatment in HIV-1 Infected Adults With First-Line Twice-Daily Zidovudine and Lamivudine-Based Regimens Versus Pro-actively Replacing of Zidovudine and Lamivudine by Once-Daily Emtricitabine and Tenofovir Disoproxil Fumarate to Prevent Progression of or Reverse Peripheral Lipoatrophy. Completed NCT00389194 Phase 4 continuing AZT+3TC or switching AZT+3TC to TDF+ FTC
25 Multicenter, Prospective, Comparative, Randomized Controlled Clinical Trial to Evaluate the Performance and the Safety of Promelaxin® Micro-enemas Vs. Macrogol 4000 Per os in the Treatment of Functional Chronic Constipation in Children Aged Between 6 and 48 Months. Completed NCT02751411 Phase 4 Macrogol 4000
26 A 48-week Multi-centre, Open-label, Local Phase IV Study to Demonstrate the Efficacy and Safety of Adefovir Dipivoxil Tablets (10mg) in Chinese Subjects With Compensated Chronic Hepatitis B Completed NCT00441974 Phase 4 adefovir dipivoxil
27 Analysis of Lipodystrophy in HIV-Infected Individuals A Prospective, Non-randomised, 48 Week Study of the Effect of PI Containing and Non-PI Containing Antiretroviral Regimens on the Expression of Adipocyte Specific Genes, Protein Levels and Cellular Structure in HIV-infected Individuals, Naive to Therapy, Who Are Starting Therapy for the First Time Completed NCT00192660 Phase 4 Lamivudine;Stavudine;Didanosine;Zidovudine;Tenofovir;Abacavir;Efavirenz (EFV);Nevirapine;Indinavir;Saquinavir;Amprenavir;Ritonavir;Nelfinavir;Tipranavir;enfuvirtide (T20)
28 XTEND-CIU (Xolair Treatment Efficacy of Longer Duration in Chronic Idiopathic Urticaria): A Phase IV, Multicenter, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Omalizumab Through 48 Weeks in Patients With Chronic Idiopathic Urticaria Completed NCT02392624 Phase 4 Omalizumab;Placebo
29 Pegasys and Copegus for Asian Patients With Treatment-naive Hepatitis C Genotypes 6, 7, 8, 9: a Phase IV, Randomized, Open-labeled, Multicenter Trial Comparing 24-week vs. 48-week Therapy Completed NCT00575224 Phase 4 Pegylated interferon and ribavirin
30 A Phase IV Randomized, Multicenter, Open-Label Study to Compare the Safety, Tolerability and Efficacy of Trizivir (Abacavir 300mg, Lamivudine 150mg, and Zidovudine 300mg) BID vs Combivir (Lamivudine 150mg and Zidovudine 300mg) BID Plus Atazanavir 400mg QD in Antiretroviral Naive HIV-1 Infected Subjects Over 48 Weeks Completed NCT00082394 Phase 4 Trizivir;atazanavir;Combivir
31 A Phase IV 48-Week, Randomized, Open-Label, Multicenter Trial of Abacavir (300mg BID)/Efavirenz (600mg QD)/Didanosine (400mg QD) +/- Hydroxyurea (500mg BID) in HIV-1 Infected Subjects Failing Initial Therapy With 3TC/ZDV (or d4T) +/- Protease Inhibitor(s) Completed NCT00005018 Phase 4 Hydroxyurea;Abacavir sulfate;Efavirenz;Didanosine
32 A Phase IV, Open-label, Multicenter Study of Treatment With TRIZIVIR (Abacavir 300mg/Lamivudine 150mg/Zidovudine 300mg) Twice Daily and Tenofovir 300mg Once-daily for 48 Weeks in HIV-infected Subjects Experiencing Early Virologic Failure (ZIAGEN Intensification Protocol) Completed NCT00038506 Phase 4 abacavir/lamivudine/zidovudine;tenofovir
33 A Phase 4 Double-blind Study to Evaluate the Shedding and Immunogenicity of Trivalent and Quadrivalent Formulations of FluMist in Children 24 to < 48 Months of Age Completed NCT03143101 Phase 4
34 A Phase IV 48 Week, Open Label, Pilot Study of Kaletra and Intelence Tablets in Naive Subjects Completed NCT01045369 Phase 4 Kaletra and Intelence Tablets
35 AVANDAMET Compared to Metformin Evaluation Trial (ACME): A 48-week Randomized, Open-label, Multicenter Study to Compare the Efficacy and Tolerability of AVANDAMET to Metformin Monotherapy in Subjects With Type 2 Diabetes Mellitus Who Are Not Achieving Glycemic Control on Submaximal Metformin. Completed NCT00241605 Phase 4 rosiglitazone/metformin
36 Does a Single Oral Dose of Dexamethasone After Successful Emergency Treatment of Migraine Reduce the Incidence or Severity of Rebound Headache Within 48 Hours? Completed NCT00216736 Phase 4 Dexamethasone;placebo
37 A Phase 4 Open-Label Pilot Study of the Safety and Tolerability of High Dosage of CIFN Plus RBV Administered Daily for 48 Weeks in HCV Genotype 1 Infected Patients Who Are Nonresponders to Prior Pegylated Interferon Alfa Plus RBV Therapy Completed NCT00266318 Phase 4 Interferon Alfacon-1 and Ribavirin
38 Timing of IUI 24 or 48 Hours After Spontaneous LH Peak: a Randomised Controlled Trial Completed NCT01622023 Phase 4
39 Phase 2 Randomized Multicenter Controlled Study of Ribavirin Pre-treatment (8 Weeks) Followed by Standard Therapy With Ribavirin and Pegylated Interferon (48 Weeks) in Transplanted Patients With Recurrence of Chronic Hepatitis C Completed NCT00993122 Phase 4 ribavirin pre-treatment
40 48 Week Pilot Trial Assessing the Efficacy of Pioglitazone, Atorvastatin, Pegasys and Weight Based Ribavirin in Chronic Hepatitis C, Genotype 1 Patients Who Have Previously Relapsed or Did Not Respond to PegInterferon /Ribavirin Therapy Completed NCT00926614 Phase 4 pioglitazone (Actos);atorvastatin (Lipitor)
41 Intra-Venous Acetaminophen and Muscle Relaxants After Total Knee Arthroplasty (TKA). Prospective, Randomized, Open-label Trial to Determine if Switching From Oral to Intravenous Acetaminophen and Orphenadrine for 48 Hours After TKA Improves Outcomes. Completed NCT02449369 Phase 4 Preop acetaminophen IV;Preop orphenadrine IV;Postop oral oxycodone & acetaminophen;Postop hydromorphone IV;Postop oral orphenadrine;Postop oral oxycodone;Postop acetaminophen IV;Postop orphenadrine IV
42 A Randomized, Open Labeled, Active-Controlled Trial of 24-Week Versus 48-Week Courses of Peg-Interferon Alpha Plus Ribavirin for Genotype-1 Infected Chronic Hepatitis C Patients Completed NCT00629967 Phase 4 pegylated interferon alpha 2a and ribavirin;Pegylated interferon alfa-2a and ribavirin
43 Effect of Early 48-hour Sevoflurane Inhalation on Gas Exchange and Inflammation in Patients Presenting With Acute Respiratory Distress Syndrome (ARDS) : a Monocentric, Prospective, Randomized Study. Completed NCT02166853 Phase 4 sevoflurane;midazolam
44 A Modified 48 Hour Patch Test of Neo-Synalar Cream, Sodium Lauryl Sulfate (Positive Control) and Saline (Negative Control) Completed NCT02168478 Phase 4 Neo-Synalar Cream
45 Golimumab Versus Pamidronate for the Treatment of Axial Spondyloarthropathy: a 48-week Randomized Controlled Trial Completed NCT01718951 Phase 4 golimumab;Pamidronate
46 A Phase IV, Open Label, Multi-center Study to Assess the Effect of Intravitreal Injections of Macugen (Pegaptanib Sodium Injection) Administered Every 6 Weeks for 48 Weeks on the Corneal Endothelium. Completed NCT01573572 Phase 4 pegaptanib sodium injection
47 Study to Evaluate the Activity and Tolerability of Lopinavir/Ritonavir and Lamivudine Bitherapy Instead of a Triple Therapy That Includes Lopinavir/Ritonavir and Lamivudine or Emtricitabine in HIV Patients With Viral Suppression: Controlled Clinical Trial, Open Label, Randomized, of 48 Weeks of Follow-up Completed NCT01471821 Phase 4 antiretroviral treatment
48 A Randomized Controlled Study Compares the 48 Weeks Results of HIV-1 RNA Between Ritonavir-boosted Lopinavir Monotherapy and Ritonavir-boosted Lopinavir + Optimized Background Regimens in HIV-1 Infected Patients Who Have HIV-1 RNA <50 Copies/ml More Than 6 Months While Receiving Salvage PI-based Regimen and Previously Failed NNRTI-based Regimen Completed NCT01189695 Phase 4 Ritonavir-boosted lopinavir;optimized background regimens (OBRs)
49 A 48 Week Extension to CTBM100C2401, a Single Arm, Open-label, Multicenter, Phase IV Extension Trial to Assess Long Term Safety of Tobramycin Inhalation Powder (TIP) in Patients With Cystic Fibrosis Who Completed Participation in CTBM100C2401. Completed NCT01775137 Phase 4 TBM100
50 A Phase 4, Randomized, Open-label, Active-Controlled, Superiority Study to Evaluate the Efficacy and Safety of Tenofovir Disoproxil Fumarate (TDF) in Combination With Peginterferon α-2a (Pegasys®) Versus Standard of Care Tenofovir Disoproxil Fumarate Monotherapy or Peginterferon α-2a Monotherapy for 48 Weeks in Non-Cirrhotic Subjects With HBeAg-Positive or HBeAg-Negative Chronic Hepatitis B (CHB) Completed NCT01277601 Phase 4 TDF;Peg-IFN

Search NIH Clinical Center for 48,xxyy Syndrome

Genetic Tests for 48,xxyy Syndrome

Anatomical Context for 48,xxyy Syndrome

Organs/tissues related to 48,xxyy Syndrome:

MalaCards : Testes, Heart, Breast, Bone, Skin, Liver, Prostate

Publications for 48,xxyy Syndrome

Articles related to 48,xxyy Syndrome:

(show top 50) (show all 58)
# Title Authors PMID Year
1
Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review. 62
36360447 2022
2
A rare case of 48, XXYY syndrome in Taiwan. 62
35659752 2022
3
48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. 62
32389125 2020
4
Interstitial lung disease reveals 48,XXYY syndrome in a child. 62
31721284 2020
5
[48,XXYY syndrome: A report of four cases]. 62
33346419 2020
6
First prenatal case of 48,XXYY syndrome detected by maternal cell-free DNA testing. 62
31339398 2020
7
Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome. 62
34192699 2020
8
Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome. 62
28980534 2018
9
A rare sex chromosome aneuploidy: 48,XXYY syndrome. 62
27489468 2016
10
Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report. 62
26069418 2015
11
Brain and behavior in 48, XXYY syndrome. 62
26106537 2015
12
[48,XXYY men with azoospermia: how to manage infertility?]. 62
24934769 2014
13
Retinal dysfunction and high myopia in association with 48,XXYY syndrome. 62
24048723 2013
14
48, XXYY syndrome associated tremor. 62
23487807 2013
15
Distinct mechanism of formation of the 48, XXYY karyotype. 62
23822881 2013
16
Prenatal ultrasound diagnosis of a 48,XXYY syndrome. 62
23473874 2013
17
An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. 62
23087874 2012
18
Duane syndrome in association with 48,XXYY karyotype. 62
21680214 2011
19
48,XXYY in a General Adult Psychiatry Department. 62
20436773 2010
20
A case of 48,XXYY syndrome detected prenatally by QF-PCR. 62
19916722 2009
21
Tremor in 48,XXYY syndrome. 62
19705466 2009
22
A new look at XXYY syndrome: medical and psychological features. 62
18481271 2008
23
XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. 62
17828661 2007
24
48,XXYY syndrome, mood disorder, and aggression. 62
15994727 2005
25
[Fluorescence in situ hybridization detection of peripheral lymphocyte and ultrastructural study of the testicular tissue in a 48,XXYY syndrome patient]. 62
14556200 2003
26
Clinical findings and phenotype in a toddler with 48,XXYY syndrome. 62
12784313 2003
27
Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. 62
11127505 2000
28
[Klinefelter 48 XXYY syndrome. Case report]. 62
11203413 2000
29
Central precocious puberty in 48,XXYY Klinefelter syndrome variant. 62
10821227 1999
30
Congenital camptodactyly associated with the 48,XXYY syndrome. 62
9555582 1998
31
An XXYY male with schizophrenia. 62
8887709 1996
32
Congenital heart disease in the 48,XXYY syndrome. 62
7586648 1995
33
XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. 62
8588846 1995
34
[A case of 48 XXYY Klinefelter's syndrome]. 62
7869654 1994
35
The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. 62
7526370 1994
36
48,XXYY syndrome associated with acromegaloidism. 62
8389624 1993
37
[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]. 62
1614446 1992
38
48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. 62
1568036 1992
39
Seminoma of the testis in a patient with 48,XXYY variant of Klinefelter's syndrome. 62
2052972 1991
40
The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. 62
1781953 1991
41
[Clinical study and hormonal evaluation of a 48, XXYY male. Comparison with previously published cases]. 62
2101492 1990
42
A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. 62
2387088 1990
43
[A clinical description and hormonal assessment of a 48, XXYY male. A comparison with cases previously published]. 62
2130427 1990
44
[48,XXYY syndrome in a 2-year-old boy]. 62
3381208 1988
45
[A case of 48,XXYY syndrome with recurrent foot ulcers and renal hypouricemia. Effective treatment of ulcer by autologous skin transplantation]. 62
3309097 1987
46
[The 48 XXYY syndrome]. 62
3731234 1986
47
Renal hypouricaemia in a patient with 48,XXYY syndrome. 62
3714610 1986
48
[48,XXYY syndrome in a 4-year-old subject]. 62
3725607 1986
49
Mental illness, epilepsy and hypothyroidism in XXYY syndrome. 62
6743937 1984
50
The prenatal diagnosis of the 48,XXYY syndrome. 62
7145838 1982

Variations for 48,xxyy Syndrome

Expression for 48,xxyy Syndrome

Search GEO for disease gene expression data for 48,xxyy Syndrome.

Pathways for 48,xxyy Syndrome

GO Terms for 48,xxyy Syndrome

Sources for 48,xxyy Syndrome

2 CDC
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30 HPO
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
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72 UMLS via Orphanet
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