Digital Health Assistant & Symptom Checker | Symptoma
0%
Restart

Are you sure you want to clear all symptoms and restart the conversation?

About COVID-19 Jobs Press Scholarship Terms Privacy Imprint Medical Device Language
Languages
Suggested Languages
English en
Other languages 0
2.1
Klinefelter Syndrome with Male Phenotype with more than Two X Chromosomes

Presentation

On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are [icd10data.com]

At present, only a mild generalized hypotonia emerged in our patient. [ijponline.biomedcentral.com]

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]

Due to the scarcity of this female chromosomal variation, it is difficult to define a common phenotypic presentation. [thefocusfoundation.org]

This case presents important comparisons between the phenotypes of 48, XXYY syndrome and the classic 47, XXY karyotype. [symbiosisonlinepublishing.com]

Musculoskeletal

  • 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]

Workup

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]

Treatment

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

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

Treatment depends on the features in each individual and often involves the coordinated efforts of a multidisciplinary team of specialists. [rareguru.com]

Prognosis

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]

[…] 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]

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]

Etiology

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]

Epidemiology

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]

Pathophysiology

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]

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]

Prevention

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]

Extra copies of genes on the X chromosome interfere with male sexual development, preventing the testes from functioning normally and reducing the levels of testosterone. [encyclopedia.pub]

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. [medlineplus.gov]

Languages
Suggested Languages
English en
Other languages 0
2.1
About Symptoma.com COVID-19 Jobs Press Scholarship
Contact Terms Privacy Imprint Medical Device