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

Features a downloadable Online Image Collection that you can use to enhance your presentations. Presents two brand-new chapters covering urinary cytology and fine needle aspiration to keep you up to date. [books.google.it]

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]

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]

• Developmental Delay

  While the spectrum of cognitive abilities extends much higher than originally described, developmental delays, cognitive impairments and behavioural disorders are common and require strong treatment plans. [ingentaconnect.com]

  Affiliated tissues include heart, and related phenotypes are global developmental delay and intellectual disability, mild Genetics Home Reference : 26 48,XXXY syndrome is a chromosomal condition in boys and men that causes intellectual disability, developmental [malacards.org]

• Tall Stature

  While often compared with 47,XXY/Klinefelter syndrome because of shared features including tall stature and hypergonadotropic hypogonadism, 48,XXYY, 48,XXXY and 49,XXXXY syndromes are associated with additional physical findings, congenital malformations [ingentaconnect.com]

  This syndrome shares two findings with Klinefelter syndrome, namely tall stature and hypergonadotropic hypogonadism but at this time no genital anomalies have been reported in patients with this tetrasomy. [degruyter.com]

• Male Hypogonadism

  Treatment Treatment with androgens reduces gynecomastia and evidence of male hypogonadism and increases strength and libido in patients with all variants of Klinefelter syndrome. [britannica.com]

  J Clin Endocr. 1942; 2: 615 Scopus (612) Crossref Google Scholar Williams RH Classification of male hypogonadism. [amjmed.com]

  […] and male infertility (INFERTILITY, MALE). [fpnotebook.com]

• Inflammation

  Comprehensive in scope, this title begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. [books.google.com]

  Eosinophilic Granulomatosis With Polyangiitis (EPGA) January 17, 2019 by Eosinophilic granulomatosis with polyangiitis (EGPA), also called Churg Strauss syndrome, is a rare, chronic disorder and a form of primary systemic autoimmune vasculitis characterized by inflammation [checkrare.com]

  It begins with a look at normal anatomy and histology for each organ system...followed by discussions of the pathology of congenital anomalies, inflammations, non-neoplastic diseases and neoplasia. [books.google.it]

  and endocarditis (inflammation of the lining of the heart). [livingnaturallyonline.com]

• Swelling

  If given by intramuscular injection, this can rarely cause pain and swelling at the site of the injection. Less common side-effects include headache, mood change, nausea, jaundice, increased red blood cells, high blood pressure and fluid retention. [yourhormones.info]

  Background An abscess is a collection of pus in any part of the body that is surrounded by swelling and inflammation. An abscess may develop, enlarge, or subside, depending upon the degree of infection by microorganisms, such as bacteria. [livingnaturallyonline.com]

• Increased Muscle Mass

  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]

  In postpubertal patients with Klinefelter syndrome, androgen replacement therapy produces adequate sexual maturation with increased muscle mass, a more masculine body contour, increased amounts of body hair, enlargement of the penis, hyperpigmentation [glowm.com]

• Hyperlaxity

  188cm) and are more likely to have congenital malformations such as radioulnar synostoses or clinodactyly.3,4 Facial and body dysmorphism (hypertelorism, epicanthus, narrow lid opening, low hairline implantation, flat feet, joint hyperextensibility and hyperlaxity [elsevier.es]

• Hypertelorism

  The patient disclosed a dysmorphism with hypertelorism, up slanting palpebral fissure, broad, high and bulging forehead, hypertelorism, very marked furrow of the filtrum and the mouth in the shape of a cocked hat, a microstomy and a development delay. [imedpub.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]

  Functional abnormality of male internal genitalia;HP:0000028|Cryptorchidism;HP:0000046|Scrotal hypoplasia;HP:0000098|Tall stature;HP:0000144|Decreased fertility;HP:0000175|Cleft palate;HP:0000277|Abnormality of the mandible;HP:0000286|Epicanthus;HP:0000316|Hypertelorism [pediascape.org]

  Low hair implantation, abnormal ears, hypertelorism, and epicanthus were also found. As regards secondary sexual characteristics, he had no pubic and axillary hair and showed infantile genitalia (2-mL testes, 3-cm penis). [elsevier.es]

  Affected individuals may have distinctive facial features, including widely spaced eyes (ocular hypertelorism), outside corners of the eyes that point upward (upslanting palpebral fissures), and skin folds covering the inner corner of the eyes (epicanthal [malacards.org]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  […] this page is secure Abstract References Citations Supplementary Data Article Media Metrics Suggestions Abstract Sex chromosome tetrasomy and pentasomy conditions occur in 1:18 000–1:100 000 male births. [ingentaconnect.com]

  These findings suggest that the three X-chromosomes of the proband came from his mother. [pediatrics.aappublications.org]

  "-- 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]

• Aggressive Behavior

  […] organized structure Recommend and arrange for dental care Refer to early intervention programs and Klinefelter Syndrome/disability support groups as needed Possible Side Effects of Testosterone Treatment Minor allergic reaction at injection site Increased aggressive [cme.ucsd.edu]

  Learning, speech, and motor retardations are more common in variant 48,XXXY, but also appear in the classical form.2,6–8 An immature, passive, cooperative, and not particularly aggressive behavior has been reported in patients with the 48,XXXY variant [elsevier.es]

  Testosterone therapy, which is giving affected individuals doses of testosterone on a regular basis, has been shown to reduce aggressive behavior in these patients.[3] However, this therapy has also been associated with negative side effects: worsening [en.wikipedia.org]

• Behavior Disorder

  Affected males 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 [encyclopedia.pub]

  Affected males 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 [ghr.nlm.nih.gov]

  Behavioral characteristics can include executive function impairments, difficulties with attention, impulsivity and hyperactivity. Attention-deficit/hyperactivity disorder (ADHD) is often diagnosed. [rarediseases.org]

  The syndrome manifests later on in life with abdominal adiposity, small testicles, delayed development, behavioral disorders, learning disabilities, and delayed puberty, with such symptoms not presenting until early puberty [5,6,7]. [jmedicalcasereports.biomedcentral.com]

• Delayed Milestone

  Signs & Symptoms In infancy and early childhood, delayed milestones in speech and motor skills are common, as are medical features including low muscle tone (hypotonia), feeding disorders, delayed appearance of teeth, crossed eyes (strabismus) and a twisted [rarediseases.org]

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. [ingentaconnect.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]

There is no cure, but treatments are available. It is important to start treatment as early as possible. With treatment, most boys grow up to have normal lives. Treatments include testosterone replacement therapy and breast reduction surgery. [medlineplus.gov]

PMID: 5317784 Prognosis Samango-Sprouse C Semin Reprod Med 2001 Jun;19(2):193-202. doi: 10.1055/s-2001-15400. PMID: 11480917 Moghe M, Patel ZM, Peter JJ, Ambani LM Hum Genet 1981;58(2):184-7. doi: 10.1007/BF00278708. [ncbi.nlm.nih.gov]

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]

[…] skills) are a significant area of weakness, necessitating community-based supports for almost all individuals in adulthood.[2] Additional treatment recommendations based on the individual strengths and weaknesses in XXYY syndrome may be required.[6] Prognosis [en.wikipedia.org]

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]

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]

Synonyms ~ Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]

[from ORDO] Etiology Stem Cell Res 2020 Dec;49:102098. Epub 2020 Nov 24 doi: 10.1016/j.scr.2020.102098. [ncbi.nlm.nih.gov]

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]

The discussion covers the phenotype spectrum, epidemiology, mode of inheritance, pathogenesis, and clinical profile of each condition, all of which is accompanied by a wealth of illustrations. [books.google.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]

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]

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]

Author information Authors and Affiliations 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 [ijponline.biomedcentral.com]

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]

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]

Prevention Klinefelter syndrome usually is not inherited but occurs during fetal development, so there is no means of preventing the disease. [healthofchildren.com]