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 A 39-year-old Arab man presented to our fertility clinic for fertility treatment. [jmedicalcasereports.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]

Watch the video Thinking About Starting Testosterone for XXY/XXYY/XXXY Presentation slides from the 2017 AXYS Family Conference presentation: Thinking About Starting Testosterone for XXY/XXYY/XXXY (PDF) Presented by Shanlee Davis, MD, MSCS Klinefelter [genetic.org]

• Chronic Infection

  […] otitis media Chronic infections of the middle ear 0000389 Clinodactyly of the 5th finger Permanent curving of the pinkie finger 0004209 Constipation 0002019 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Delayed eruption of teeth [rarediseases.info.nih.gov]

• Prognathism

  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]

• Sloping Shoulders

  shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Elbow dislocation Dislocations of the elbows Elbow dislocations [ more ] 0003042 Epicanthus Eye folds Prominent eye folds [ more ] 0000286 Gynecomastia Enlarged [rarediseases.info.nih.gov]

• Hip Dislocation

  dislocation Dislocated hips Dislocation of hip [ more ] 0002827 Inguinal hernia 0000023 Irritability Irritable 0000737 Mandibular prognathia Big lower jaw Increased projection of lower jaw Increased size of lower jaw Large lower jaw Prominent chin Prominent [rarediseases.info.nih.gov]

• 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]

• 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 [malacards.org]

  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 [encyclopedia.pub]

• Anger

  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]

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]

Future research should focus on genotype–phenotype relationships and the development of evidence-based treatments. [ingentaconnect.com]

More Symptoms of 48,XXXY syndrome » Treatments: 48,XXXY syndrome Treatment : There is no cure for 48, XXXY syndrome. [familydiagnosis.com]

Beyond all, the prognosis remains bad in term of fertility since this child will remain barren all his life. It is therefore important that genetic counseling focusses on this aspect early enough in order to better prepare the child's family. [imedpub.com]

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]

If an older adolescent or adult had an amnio with normal chromosomes but still has problems of unknown etiology, see a geneticist to review the previous testing to see if any updated techniques may be helpful in evaluation the etiology of the problem. [genetic.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]

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]

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]

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]

During cell division, an error called nondisjunction prevents X chromosomes from being distributed normally among reproductive cells as they form. [encyclopedia.pub]

Testosterone replacement therapy is aimed at promoting the development and maintenance of secondary sexual characteristics, improving sexual function, and increasing muscle mass and strength, as well as preventing excess height. [elsevier.es]

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]