48,xxyy Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: 48X003 MIFTS: 39	48,xxyy Syndrome Categories: Endocrine diseases, Fetal diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Endocrine diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Chromosomal abnormalities, not elsewhere classified

Other sex chromosome abnormalities, male phenotype, not elsewhere classified

Other specified sex chromosome abnormalities, male phenotype

Orphanet: ⁵⁸

Rare neurological diseases

Rare endocrine diseases

Developmental anomalies during embryogenesis

External Ids:

MESH via Orphanet ⁴⁴ D007713

ICD10 via Orphanet ³² Q98.8

UMLS via Orphanet ⁷² C2936741

Orphanet ⁵⁸ ORPHA10

UMLS ⁷¹ C2936741

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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...

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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
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:

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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

Sources

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

Chlorhexidine

Approved, Vet_approved, Withdrawn

Phase 4

55-56-1

2713 9552079

Mycophenolic acid

Approved, Investigational

Phase 4

24280-93-1

446541

Cobicistat

Approved

Phase 4

1004316-88-4

24950485 25151504

Rilpivirine

Approved

Phase 4

500287-72-9

6451164

Elvitegravir

Approved

Phase 4

697761-98-1

23083982 5277135

Amantadine

Approved

Phase 4

768-94-5

2130

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

Rifabutin

Approved, Investigational

Phase 4

72559-06-9

46783538 6323490

Benzocaine

Approved, Investigational

Phase 4

1994-09-7, 94-09-7

2337

Tannic acid

Approved

Phase 4

1401-55-4

16129878 16129778

Lamivudine

Approved, Investigational

Phase 4

134678-17-4

60825

Efavirenz

Approved, Investigational

Phase 4

154598-52-4

64139

Abacavir

Approved, Investigational

Phase 4

136470-78-5, 188062-50-2

441300

Zidovudine

Approved

Phase 4

30516-87-1

35370

Midazolam

Approved, Illicit

Phase 4

59467-70-8

4192

Peginterferon alfa-2b

Approved

Phase 4

215647-85-1, 99210-65-8

Nevirapine

Approved

Phase 4

129618-40-2

4463

Darunavir

Approved

Phase 4

635728-49-3, 206361-99-1

213039

Cefuroxime

Approved

Phase 4

55268-75-2

5479529

Cefazolin

Approved

Phase 4

25953-19-9

33255

Sevoflurane

Approved, Vet_approved

Phase 4

28523-86-6

5206

Insulin aspart

Approved

Phase 4

116094-23-6

16132418

Insulin lispro

Approved

Phase 4

133107-64-9

16132438

Dexamethasone acetate

Approved, Investigational, Vet_approved

Phase 4

1177-87-3

3680

Dexamethasone

Approved, Investigational, Vet_approved

Phase 4

50-02-2

3003 5743

Acetaminophen

Approved

Phase 4

103-90-2

1983

Etravirine

Approved

Phase 4

269055-15-4

193962

Metformin

Approved

Phase 4

1115-70-4, 657-24-9

4091

Glimepiride

Approved

Phase 4

93479-97-1

3476

Saxagliptin

Approved

Phase 4

361442-04-8

11243969

Bismuth subsalicylate

Approved, Vet_approved

Phase 4

14882-18-9

53629521 16682734

Amprenavir

Approved, Investigational

Phase 4

161814-49-9

65016

Nelfinavir

Approved

Phase 4

159989-64-7

64143

Stavudine

Approved, Investigational

Phase 4

3056-17-5

18283

Indinavir

Approved

Phase 4

150378-17-9

5362440

Didanosine

Approved

Phase 4

69655-05-6

50599

Atorvastatin

Approved

Phase 4

134523-00-5

60823

Omalizumab

Approved, Investigational

Phase 4

242138-07-4

Interferon alfacon-1

Approved, Investigational

Phase 4

118390-30-0

Rosiglitazone

Approved, Investigational

Phase 4

122320-73-4, 155141-29-0

77999

Hydroxyurea

Approved

Phase 4

127-07-1

3657

Pioglitazone

Approved, Investigational

Phase 4

111025-46-8

4829

Hydromorphone

Approved, Illicit

Phase 4

466-99-9, 71-68-1

5284570

Oxycodone

Approved, Illicit, Investigational

Phase 4

76-42-6

5284603

Orphenadrine

Approved

Phase 4

83-98-7

4601

Tobramycin

Approved, Investigational

Phase 4

32986-56-4

36294

Framycetin

Approved, Experimental, Vet_approved

Phase 4

1404-04-2, 119-04-0, 3947-65-7

413349 8378

Fluocinolone acetonide

Approved, Investigational, Vet_approved

Phase 4

67-73-2

6215

Pamidronic acid

Approved

Phase 4

40391-99-9

4674

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

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(show top 50) (show all 58)

#	Title	Authors	PMID	Year
1	Clinical, Cognitive and Neurodevelopmental Profile in Tetrasomies and Pentasomies: A Systematic Review. ⁶²	Ricciardi G...Sogos C	36360447	2022
2	A rare case of 48, XXYY syndrome in Taiwan. ⁶²	Pai LF...Chu DM	35659752	2022
3	48,XXYY syndrome presenting with long-term infertility and newly observed neck deformities: a case report. ⁶²	Alhalabi MM...Alhalabi M	32389125	2020
4	Interstitial lung disease reveals 48,XXYY syndrome in a child. ⁶²	Gros M...de Becdelievre A	31721284	2020
5	[48,XXYY syndrome: A report of four cases]. ⁶²	Tian LL...Gao X	33346419	2020
6	First prenatal case of 48,XXYY syndrome detected by maternal cell-free DNA testing. ⁶²	Li J...Li DZ	31339398	2020
7	Putative Digenic GJB2/MYO7A Inheritance of Hearing Loss Detected in a Patient with 48,XXYY Klinefelter Syndrome. ⁶²	Zhang Q...Jin P	34192699	2020
8	Fertility achieved through in vitro fertilization in a male patient with 48,XXYY syndrome. ⁶²	Liu DF...Jiang H	28980534	2018
9	A rare sex chromosome aneuploidy: 48,XXYY syndrome. ⁶²	Atik T...Ozkinay F	27489468	2016
10	Endodontic management of a hypertaurodontic tooth associated with 48, XXYY syndrome: A review and case report. ⁶²	Krishnamoorthy S...Gopikrishna V	26069418	2015
11	Brain and behavior in 48, XXYY syndrome. ⁶²	Hanley AP...Giedd JN	26106537	2015
12	[48,XXYY men with azoospermia: how to manage infertility?]. ⁶²	Roche C...Hugues JN	24934769	2014
13	Retinal dysfunction and high myopia in association with 48,XXYY syndrome. ⁶²	Karampelas M...Webster A	24048723	2013
14	48, XXYY syndrome associated tremor. ⁶²	Lote H...Bain PG	23487807	2013
15	Distinct mechanism of formation of the 48, XXYY karyotype. ⁶²	Balsera AM...Rodriguez-Lopez R	23822881	2013
16	Prenatal ultrasound diagnosis of a 48,XXYY syndrome. ⁶²	Kemeny S...Vago P	23473874	2013
17	An adolescent with 48,XXYY syndrome with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder and renal malformations. ⁶²	Katulanda P...Dissanayake VH	23087874	2012
18	Duane syndrome in association with 48,XXYY karyotype. ⁶²	Weis A...Kodsi S	21680214	2011
19	48,XXYY in a General Adult Psychiatry Department. ⁶²	Borja-Santos N...Cardoso G	20436773	2010
20	A case of 48,XXYY syndrome detected prenatally by QF-PCR. ⁶²	Zhang QS...Li DZ	19916722	2009
21	Tremor in 48,XXYY syndrome. ⁶²	Tartaglia N...Hall DA	19705466	2009
22	A new look at XXYY syndrome: medical and psychological features. ⁶²	Tartaglia N...Hagerman R	18481271	2008
23	XXYY syndrome with schizophrenia: implications for genetic research in psychotic spectrum disorders. ⁶²	Rege S...Winter K	17828661	2007
24	48,XXYY syndrome, mood disorder, and aggression. ⁶²	Lolak S...Andres F	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	Liu YZ...Zhu HB	14556200	2003
26	Clinical findings and phenotype in a toddler with 48,XXYY syndrome. ⁶²	Demirhan O	12784313	2003
27	Improvement of peripheral neuropathy by testosterone in a patient with 48,XXYY syndrome. ⁶²	Izumi S...Tsubahara A	11127505	2000
28	[Klinefelter 48 XXYY syndrome. Case report]. ⁶²	Vall Combelles O...Garcia Algar O	11203413	2000
29	Central precocious puberty in 48,XXYY Klinefelter syndrome variant. ⁶²	Bertelloni S...Simi P	10821227	1999
30	Congenital camptodactyly associated with the 48,XXYY syndrome. ⁶²	Bosch AM...Schrander-Stumpel CT	9555582	1998
31	An XXYY male with schizophrenia. ⁶²	Lee JW	8887709	1996
32	Congenital heart disease in the 48,XXYY syndrome. ⁶²	Meschede D...Horst J	7586648	1995
33	XYY syndrome and other Y chromosome polysomies. Mental status and psychosocial functioning. ⁶²	Fryns JP...Van den Berghe H	8588846	1995
34	[A case of 48 XXYY Klinefelter's syndrome]. ⁶²	Ikegami M...Kurita T	7869654	1994
35	The 48,XXYY syndrome: a case detected by maternal serum alpha-fetoprotein screening. ⁶²	Nyberg RH...Simola KO	7526370	1994
36	48,XXYY syndrome associated with acromegaloidism. ⁶²	Yamane Y...Tsujii T	8389624	1993
37	[48,XXYY syndrome in a boy with essential tremor. Comparison with 120 cases from the literature]. ⁶²	Donati F...Vassella F	1614446	1992
38	48, XXYY syndrome associated with ethylenediaminetetraacetic acid (EDTA)-dependent pseudothrombocytopenia. ⁶²	Kodama T...Miura AB	1568036	1992
39	Seminoma of the testis in a patient with 48,XXYY variant of Klinefelter's syndrome. ⁶²	Reddy SR...Richardson P	2052972	1991
40	The 48,XXYY syndrome. Follow-up data on clinical characteristics and psychological findings in 4 patients. ⁶²	Borghgraef M...Van den Berghe H	1781953	1991
41	[Clinical study and hormonal evaluation of a 48, XXYY male. Comparison with previously published cases]. ⁶²	Forga L...Rodriguez RM	2101492	1990
42	A male patient with 48,XXYY syndrome: importance of distinction from Klinefelter's syndrome. ⁶²	Grammatico P...Del Porto G	2387088	1990
43	[A clinical description and hormonal assessment of a 48, XXYY male. A comparison with cases previously published]. ⁶²	Barberia JJ...Rodriguez RM	2130427	1990
44	[48,XXYY syndrome in a 2-year-old boy]. ⁶²	Kinge E...Petersen MB	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	Nakajima H...Tarui S	3309097	1987
46	[The 48 XXYY syndrome]. ⁶²	Kuklik M...Klan Z	3731234	1986
47	Renal hypouricaemia in a patient with 48,XXYY syndrome. ⁶²	Nakajima H...Tarui S	3714610	1986
48	[48,XXYY syndrome in a 4-year-old subject]. ⁶²	Cammarata M...Giuffre L	3725607	1986
49	Mental illness, epilepsy and hypothyroidism in XXYY syndrome. ⁶²	Vanyan M	6743937	1984
50	The prenatal diagnosis of the 48,XXYY syndrome. ⁶²	Bibbins PE...Jones HW	7145838	1982