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]

"-- 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]

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]

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]

References Please input treatment information here. [pediascape.org]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

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]

[…] 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]

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]

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