Sindrome di klinefelter pdf

Klinefelter syndrome, chromosomal abnormality, oral aspects. Sindrome di klinefelter e autoimmunita springerlink. Ciriciri tersebut di antaranya adalah penampilan yang kurus, wajah dan tubuh yang tampak muda, atau bentuk tubuh bulat dengan gejala ginekomastia perkembangan jaringan payudara. Klinefelter syndrome an overview sciencedirect topics. Ada beberapa metode yang dilakukan untuk mengatasi keluhan akibat sindrom klinefelter, di antaranya. Before or shortly after birth early childhood adolescence adulthood. Sometimes, symptoms are more prominent and may include.

The cephalometric analisys of 40 subjects with klinefelter syndrome, with an age range from 5 to 58 years, were selected. Apr 29, 20 diagnosing klinefelter syndromethe greatest chances to make klinefeltersdiagnosing are in following times of life. Variation in clinical presentation and insufficient awareness of this syndrome among clinicians lead to fifty percent of. Often, symptoms may be subtle and many people do not realize they are affected. Hingga saat ini, belum ditemukan metode atau obat khusus untuk mengobati sindrom klinefelter.

Permission is granted to copy, distribute andor modify this document under the terms of the gnu free documentation license, version 1. Dikutip dari mayo clinic, sindrom klinefelter dapat disebabkan oleh. We use cookies to offer you a better experience, personalize content, tailor advertising, provide social media features, and better understand the use of our services. For males in which klinefelter syndrome is suspected, aspecial blood test is recommended to confirm theklinefelter syndrome diagnosis. Klinefelter syndrome may adversely affect testicular growth, resulting in smaller than normal testicles, which can lead to. Klinefelter syndrome is a genetic condition affecting males, and it often isnt diagnosed until adulthood. Affected males carry an additional x chromosome, which results in male hypogonadism, androgen deficiency, and impaired spermatogenesis.

Adulto con habito eunucoide, ginecomastia y escaso desarrollo muscular 4. All structured data from the file and property namespaces is available under the creative commons cc0 license. Pdf klineflter syndrome is a disorder characterised by primary male hypogonadism resulting from an xchromosome polysomy. Klinefelter syndrome is the most common sex chromosome disorder in males.

Klinefelter syndrome ks with the classic 47,xxy karyotype is the most frequent chromosomal aneuploidy, with a prevalence of 1 in 700 men. Satu salinan tambahan kromosom x di setiap sel xxy. Numerose comorbidita che richiedono unarticolata gestione clinica e terapeutica sono spesso presenti nel paziente con sindrome di klinefelter, una cromosomopatia responsabile dellalterazione della funzione testicolare. Files are available under licenses specified on their description page. This article contains a translation of sindrome di klinefelter from it. Ginekomastia ditemukan pada sekitar sepertiga dari orang dengan sindrom klinefelter, sedikit lebih tinggi daripada populasi xy. Apr 20, 2010 the initial number of patients with klinefelter syndrome was increased by a certain number of firstdegree relatives including parents, brothers and sisters but only for adults.

Sep 21, 2019 klinefelter syndrome is a genetic condition that results when a boy is born with an extra copy of the x chromosome. Mar 23, 2020 in 1942, klinefelter et al published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Numero verde 800 100 123 once id to be able to look rror and smile at myseu witho u king. Dec 08, 2018 the classic form nonmosaic type of klinefelter syndrome ks is observed in one per 660 births, with up to 3%. In 1942, klinefelter and albright reported that nine men had a syndrome characterized by gynecomastia, aspermatogenesis without leydigism and increased excretion of follicle. Kromosom x ekstra dalam beberapa sel sindrom mosaic klinefelter, dengan gejala yang lebih sedikit. Klinefelter syndrome ks, also known as 47,xxy or xxy, is the set of symptoms that result from two or more x chromosomes in males. Lo scopo del seguente lavoro e quello di descrivere le problematiche odontostomatologiche del bambino affetto dalla sindrome di klinefelter. Klinefelter syndrome is the most common sex chromosome disorder. Allegato 14 sindrome di klinefelter malattie rare toscana. In 1959, these men with klinefelter syndrome were discovered to have an extra x chromosome genotype xxy instead of the usual male sex complement genotype xy. Sindrome di klinefelter azienda sanitaria di firenze. Klinefelter syndrome is a chromosomal abnormality characterized in 80% of cases by a set of chromosomes 47 xxy and 20% from xxxy karyotype, xxyy or frameworks such as mosaicism 47xxy46xx, 47xxy46xy, etc. A study on the ks prevalence in japan found a lower prevalence at 60 per 100 000, 2 indicating the presence of racial differences.

The presence of only long lower extremities distinguishes klinefelter syndrome from the other forms of eunuchoidism that results in equally long upper and lower extremities. Este trastorno es producido por una copia extra del cromosoma x. Some patients may exhibit all of the classic signs of this disorder, including gynecomastia, small testes, sparse body hair, tallness, and. Sindrom klinefelter gejala, penyebab dan mengobati alodokter. Klinefelter syndrome is a group of conditions affecting the health of males who are born with at least one extra x chromo. The primary features are infertility, small testicles and hypogonadism. Normalmente varones tienen solamente una copia del cromosoma y y tienen 46 cromosomas total. Treatment can help males overcome many of the physical, social, and learning problems associated with the syndrome. Klinefelter syndrome symptoms and causes mayo clinic. Klinefelter syndrome is largely undiagnosed in the general population. Pengobatan bertujuan untuk meringankan gejala sindrom klinefelter sekaligus meningkatkan kualitas hidup penderitanya. Oltre al quadro di ipogonadismo ipergonadotropo, ad oggi, nei pazienti ks e stata dimostrata una maggiore predisposizione verso processi autoimmuni caratteristici dellartrite reumatoide, polimiosite e dermatomiosite, lupus eritematoso sistemico, sclerosi. Normalmente le donne possiedono due cromosomi sessuali xx e gli uomini uno x e uno y. Le comorbidita principali riguardano lassetto metabolico, lapparato cardiovascolare, losteoporosi, le neoplasie, le patologie autoimmunitarie, gli aspetti.