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48,XXXY Syndrome

49,XXXXY Syndrome


  • Abstract 49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation.[unboundmedicine.com]
  • At present, only a mild generalized hypotonia emerged in our patient.[ijponline.biomedcentral.com]
  • Case presentation Here, we report a boy with 48,XXXY/49,XXXXY mosaicism, phenotypically characterized by hypotonia, intellectual disability, ventricular septal defect, micropenis, and with mild hypertelorism, inverted nipples, a congenital hip dysplasia[paperity.org]
  • Treatment depends on the symptoms present in each individual and is best managed by a team of specialists, including cardiologists, orthopedists, speech therapists, neurologists, and endocrinologists. Life expectancy is generally normal ... 2 ...[familydiagnosis.com]
  • ."-- Journal of the International Neuropsychological Society This landmark reference covers all aspects of pediatric neuropsychology from a research-based perspective, while presenting an applied focus with practical suggestions and guidelines for clinical[books.google.com]
  • Australia: Wanneroo, Samford Valley, Mount Gravatt East, Altona North, Caroline Springs, Bulleen, Kensington, Gladesville, Menai, Bondi Beach, Wellington Point, Mount Lawley, Annerley, Tewantin, Box Hill North, Sunshine North, Yokine, Batemans Bay, Camp[maria-online.com]
Inguinal Hernia
  • In 18% of these boys, one or more major congenital abnormalities were found: Cleft palate: four cases Inguinal hernia: four cases Undescended testes: four cases Unilateral kidney agenesis and ureter deformities: one case Microcephaly: one case Corneal[glowm.com]
  • The group found common medical problems including allergies and asthma, congenital heart defects, radioulnar synostosis, inguinal hernia and/or cryptorchidism, and seizures in the patients [Tartaglia et al., 2008].[karger.com]
Recurrent Respiratory Infections
  • respiratory infections;HP:0002564 Malformation of the heart and great vessels;HP:0002648 Abnormality of calvarial morphology;HP:0002650 Scoliosis;HP:0002974 Radioulnar synostosis;HP:0003042 Elbow dislocation;HP:0003043 Abnormality of the shoulder;HP:[pediascape.org]
  • […] teeth;HP:0000689 Dental malocclusion;HP:0000717 Autism;HP:0000771 Gynecomastia;HP:0001250 Seizures;HP:0001252 Muscular hypotonia;HP:0001337 Tremor;HP:0001382 Joint hypermobility;HP:0001513 Obesity;HP:0001763 Pes planus;HP:0001883 Talipes;HP:0002019 Constipation[pediascape.org]
  • Extraoral examination revealed retruded mid face with mandibular prognathism [Figure 1]. Figure 1: (a) Preoperative extraoral photograph showing mandibular prognathism.[jcd.org.in]
  • […] also reflect ascertainment bias, however, because many cases previously studied were found in institutions for juvenile delinquents. 49,XXXYY has been reported at least twice. 103, 104 Both patients had mental retardation, delayed bone age, mandibular prognathism[glowm.com]
  • Affected males show a normal to tall stature with a decreased upper segment to lower segment ratio, hypertelorism and epicanthic folds, simplified ears and mild prognathism, skeletal anomalies including clinodactyly, abnormalities of the elbows and radioulnar[karger.com]
Delayed Dentition
  • […] asymmetry;HP:0000388 Otitis media;HP:0000470 Short neck;HP:0000486 Strabismus;HP:0000581 Blepharophimosis;HP:0000582 Upslanted palpebral fissure;HP:0000670 Carious teeth;HP:0000679 Taurodontia;HP:0000682 Abnormality of dental enamel;HP:0000684 Delayed eruption[pediascape.org]
  • HP:0000098 Tall stature;HP:0000144 Decreased fertility;HP:0000175 Cleft palate;HP:0000277 Abnormality of the mandible;HP:0000286 Epicanthus;HP:0000316 Hypertelorism;HP:0000324 Facial asymmetry;HP:0000388 Otitis media;HP:0000470 Short neck;HP:0000486 Strabismus[pediascape.org]
  • […] testes 143 143 26 26 28 28 Hypoplastic penis 11 44 ¶ 11 24 24 28 Gynecomastia 26 44 ¶ 9 24 5 10 # Wide-set eyes 0 143 2 25 20 23 Epicanthal folds 1 143 6 25 16 19 Upturned nose 0 143 0 25 5 23 Low-set ears 0 143 1 25 2 21 Malformed ears 0 143 1 25 11 21 Strabismus[glowm.com]
Hyperextensible Joints
  • Bendy (hyperextensible) joints and flat feet are common. The parents of a son with 48,XXXY almost always have normal chromosomes in their body’s cells, so they are not routinely tested.[gagesstory48syndrome.weebly.com]
  • joints, and underdeveloped genitalia with hypergonadotropic hypogonadism [Visootsak et al., 2007].[karger.com]
Small Hand
  • He had mild hypertelorism, flattened nasal bridge, slightly pronounced chin, inverted right nipple, small penis, small hands and mild generalized hypotonia.[ijponline.biomedcentral.com]
Coxa Valga
  • valga 0 143 1 25 12 14 Genu valgum 0 143 0 25 6 24 Pes planus 0 143 1 25 10 24 Malformed toes 0 143 0 25 5 24 Pes cavus 2 143 0 25 0 24 Wide gap, first and second toes 0 143 0 25 2 26 Talipes equinovarus 0 143 0 25 2 26 * An anomaly is listed if, in[glowm.com]
Short Neck
  • neck;HP:0000486 Strabismus;HP:0000581 Blepharophimosis;HP:0000582 Upslanted palpebral fissure;HP:0000670 Carious teeth;HP:0000679 Taurodontia;HP:0000682 Abnormality of dental enamel;HP:0000684 Delayed eruption of teeth;HP:0000689 Dental malocclusion;[pediascape.org]
  • About half of the reported patients have some nongonadal developmental anomaly, the most frequent being gynecomastia, short neck, epicanthal folds, radioulnar synostosis, and clinodactyly V. Fig. 4. Photograph of a 48,XXXY patient.[glowm.com]
  • Usually, they are shy but sociable, although they also easily go wild with outbursts of anger if frustrated [ 1, 3, 4 ].[ijponline.biomedcentral.com]
  • France : Aix-en-Provence, Ajaccio, Alsace, Angers, Annecy, Antibes, Aquitaine, Arles, Armagnac, Auch, Auvergne, Avignon, Avoriaz, Bastia, Bayonne, Beaune, Besançon, Biarritz, Bonifacio, Bordeaux, Boulogne-sur-Mer, Briançon, Brittany, Burgundy, Cabourg[maria-online.com]
Psychomotor Retardation
  • Abstract 49,XXXXY and 48,XXXY syndromes are rare gonosomal aneuploidies in which the affected individuals present with characteristic facial and skeletal malformations, intrauterine growth retardation, and psychomotor retardation.[unboundmedicine.com]
Short Attention Span
  • Boys and men with 48,XXXY syndrome tend to have anxiety, a short attention span, and impaired social skills. 48,XXXY syndrome is also associated with weak muscle tone (hypotonia) and problems with coordination that delay the development of motor skills[ghr.nlm.nih.gov]
Cognitive Deficit
  • The nature of social cognitive deficits in children and adults with Klinefelter syndrome (47,XXY). Genes Brain Behav. 2018 Feb 6. [Medline]. Seo JT, Lee JS, Oh TH, Joo KJ.[emedicine.medscape.com]


  • During a workup for delayed development, genotyping revealed 48, XXYY with CGG repeat sequence unremarkable for Fragile X syndrome. At seven years old his full scale IQ was 70 with verbal IQ of 80 and performance IQ of 65 as measured by WISC-III.[childhood-developmental-disorders.imedpub.com]


  • Future research should focus on genotype-phenotype relationships and the development of evidence-based treatments.[unboundmedicine.com]
  • More Symptoms of 48,XXXY syndrome » Treatments: 48,XXXY syndrome Treatment : There is no cure for 48, XXXY syndrome.[familydiagnosis.com]
  • Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments.[ingentaconnect.com]
  • References Please input treatment information here.[pediascape.org]


  • Prognosis While many men with Klinefelter syndrome live normal lives, nearly 100 percent of these men will be sterile (unable to produce a child).[healthofchildren.com]
  • What is the outlook (prognosis) for Klinefelter's syndrome? Sometimes boys with KS may struggle through adolescence. They may have difficulties at school, many frustrations and, occasionally, may have serious emotional or behavioural difficulties.[patient.info]
  • […] skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood. [1] Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required. [5] Prognosis[en.wikipedia.org]
  • Prognosis While many men with Klinefelter syndrome go on to live normal lives, nearly 100% of these men will be sterile (unable to produce a child).[medical-dictionary.thefreedictionary.com]


  • Synonyms Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here.[pediascape.org]
  • Successive meiotic nondisjuctional events during spermatogenesis, resulting in a XYY sperm have been attributed as the most probable etiological mechanism of 48, XXYY syndrome.[jcd.org.in]
  • Etiology • Meiotic nondisjunction of chromosome pairs during the first or second division of gametogenesis • Mitotic nondisjunction on the developing zygote • It’s a random event during the formation of reproductive cells 6.[slideshare.net]
  • Two XX males in one family and additional observations bearing on the etiology of XX males. Clin Genet 1977 ;11: 91 – 106. Google Scholar ISI 157. Ramos, ES, Moreira-Filho, CA, Vicente, YA.[journals.sagepub.com]


  • Epidemiology• This syndrome, evenly spread in all ethnic groups, has a prevalence of1-2 subjects every 1000 males in the general population• 3.1 % of infertile males have Klinefelter syndrome• The prevalence of the syndrome has increased over the past[slideshare.net]
  • To describe mortality in KS, we conducted an epidemiological study, using Danish registers covering the entire nation.[academic.oup.com]
  • This chapter reviews various aspects of Klinefelter syndrome, including epidemiology, cytogenetics, molecular genetics, clinical manifestations, and management.[glowm.com]
  • Epidemiology XXY aneuploidy is the most common disorder of sex chromosomes in humans, with a prevalence of one in 500 males [ 3 ].[ojrd.biomedcentral.com]
  • Klinefelter syndrome tend to have reduced mental and physical quality of life, caused directly by Klinefelter syndrome and indirectly by factors that, compared with controls, include lower levels of income, physical activity, and sexual function. [15] Epidemiology[emedicine.medscape.com]
Sex distribution
Age distribution


  • Authors’ Affiliations (1) Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli studi di Milano, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via Commenda 9, 20122 Milan, Italy (2) Neuroradiology[ijponline.biomedcentral.com]
  • The pathophysiology this not been elucidated but could be attributed to estrogen testosterone imbalance [4]. Type II diabetes is seen in about 18% of patients with KS 48, XXYY.[symbiosisonlinepublishing.com]
  • XXYY is still considered a variation of Klinefelter syndrome by some definitions, mainly because the pathophysiology of the testicular dysfunction has not been shown to differ from 47, XXY, and the most current research does not suggest that there should[en.wikipedia.org]
  • Since then, however, developments in microsurgical techniques and advances in artificial reproductive technologies (ART) have enabled over 50% of men with Klinefelter syndrome to sire their own children. [4, 5, 6, 7, 8] Pathophysiology The X chromosome[emedicine.medscape.com]


  • During cell division, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form.[ghr.nlm.nih.gov]
  • Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections.[livingnaturallyonline.com]
  • With testosterone treatment from the age of 11 it is possible that development of mamma tissue can be reduced or prevented.[klinefelters.org]
  • This is because the extra X chromosomes usually lead to small testicles and a testosterone deficiency that delays or prevents full pubertal development.[childrenscolorado.org]
  • How can this disease be prevented? There is no way to prevent the occurrence of Klinefelter syndrome.[clinicaladvisor.com]

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