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Home  ›  What Is The Genetic Makeup Of An Individual Who Has Inherited Klinefelter Syndrome?

What Is The Genetic Makeup Of An Individual Who Has Inherited Klinefelter Syndrome?

Written By Monday, May 2, 2022 Add Comment Edit

Homo disease

Medical status

Klinefelter syndrome
Other names XXY syndrome, Klinefelter'due south syndrome, Klinefelter-Reifenstein-Albright syndrome
Human chromosomesXXY01.png
47,XXY karyotype
Pronunciation
Specialty Medical genetics
Symptoms Above average height, weaker muscles, poor coordination, less body hair, breast growth, less interest in sexual practice, infertility.[ane]
Complications Infertility, autoimmune disorders, breast cancer, venous thromboembolic illness, osteoporosis
Usual onset At fertilisation[2]
Duration Long term
Causes Two or more X chromosomes in males[3]
Risk factors Older mother[iv]
Diagnostic method Genetic testing (karyotype)[5]
Prevention None
Treatment Physical therapy, speech and language therapy, counseling[6]
Prognosis Almost normal life expectancy[7]
Frequency 1:500 to 1:1,000 males[four] [eight]

Klinefelter syndrome (KS), also known as 47,XXY, is a syndrome where a male has an additional re-create of the X chromosome.[3] The principal features are infertility and small, poorly operation testicles.[3] [9] Often, symptoms are subtle and subjects practice not realize they are affected.[1] Sometimes, symptoms are more evident and may include weaker muscles, greater height, poor motor coordination, less body hair, breast growth, and less interest in sex.[1] Often, these symptoms are noticed only at puberty.[5] Intelligence is usually normal, but reading difficulties and issues with speech are more common.[1]

Klinefelter syndrome occurs randomly.[four] [10] The extra 10 chromosome comes from the father and mother nearly equally.[11] An older mother may have a slightly increased gamble of a kid with KS.[iv] The syndrome is defined by the presence of at least one actress X chromosome in add-on to a Y chromosome yielding a total of 47 or more chromosomes rather than the usual 46.[9] KS is diagnosed by the genetic test known equally a karyotype.[five]

While no cure is known, a number of treatments may assistance.[7] Physical therapy, occupational therapy, speech and language therapy, counselling, and adjustments of educational activity methods may be useful.[half-dozen] Testosterone replacement may be used in those who take significantly lower levels.[six] Enlarged breasts may be removed by surgery.[half-dozen] About one-half of afflicted males take a adventure of fathering children with the aid of assisted reproductive engineering, but this is expensive and non risk free.[6] XXY males announced to have a higher risk of breast cancer than typical, but still lower than that of females.[12] People with the condition have a nearly normal life expectancy.[7]

Klinefelter syndrome is one of the most mutual chromosomal disorders, occurring in one to two per 1,000 live male births.[4] [8] It is named later American endocrinologist Harry Klinefelter, who identified the condition in the 1940s.[13] In 1956, the actress X chromosome was identified as the cause.[xiv] Mice can also have the XXY syndrome, making them a useful inquiry model.[15]

Signs and symptoms [edit]

A person with typical untreated Klinefelter 46,XY/47,XXY mosaic, diagnosed at age xix – the scar from biopsy may be visible on left nipple.

The primary features are infertility and modest, poorly functioning testicles.[3] [9] Oft, symptoms may be subtle and many people practice not realize they are afflicted.[1] Sometimes, symptoms are more prominent and may include weaker muscles, greater height, poor coordination, less body pilus, breast growth, and low libido.[ane] Often, these symptoms are noticed only at puberty.[five]

Prenatal [edit]

An estimated sixty% of fetuses with Klinefelter syndrome finish in miscarriage.[16]

Physical [edit]

Every bit babies and children, XXY males may accept weaker muscles and reduced strength. As they grow older, they tend to get taller than boilerplate. They may have less muscle command and coordination than other boys of their age.[17]

During puberty, the physical traits of the syndrome go more than evident; considering these boys do not produce as much testosterone equally other boys, they have a less muscular torso, less facial and body pilus, and broader hips. As teens, XXY males may develop breast tissue[eighteen] and besides accept weaker bones, and a lower energy level than other males.[17]

Past adulthood, XXY males await like to males without the status, although they are often taller. In adults, possible characteristics vary widely and include lilliputian to no sign of affectedness, a lanky, youthful build and facial appearance, or a rounded body type with some degree of gynecomastia (increased breast tissue).[19] Gynecomastia is present in virtually a tertiary of affected individuals, a slightly higher percentage than in the XY population. Well-nigh 10% of XXY males have gynecomastia noticeable enough that they may cull to take cosmetic surgery.[20]

Affected males are often infertile, or have reduced fertility. Advanced reproductive assistance is sometimes possible.[21] An estimated fifty% of males with Klinefelter syndrome tin can produce sperm.[22]

The term "hypogonadism" in XXY symptoms is often misinterpreted to mean "modest testicles", when it instead means decreased testicular hormone/endocrine part. Because of (chief) hypogonadism, individuals often have a low serum testosterone level, but loftier serum follicle-stimulating hormone and luteinizing hormone levels, hypergonadotropic hypogonadism.[23] Despite this misunderstanding of the term, still, XXY men may besides take microorchidism (i.e., small testicles).[23]

The testicles of affected males are ordinarily less than 2 cm in length (and always shorter than 3.5 cm[24]), 1 cm in width, and 4 ml in volume.[25] [26]

XXY males are more than likely than other men to accept sure health problems, such as autoimmune disorders, breast cancer, venous thromboembolic disease, and osteoporosis.[17] [27] In contrast to these potentially increased risks, rare X-linked recessive weather are thought to occur less frequently in XXY males than in XY males, since these conditions are transmitted by genes on the Ten chromosome, and people with two X chromosomes are typically only carriers rather than affected by these X-linked recessive conditions.[ citation needed ]

Cognitive and developmental [edit]

Some degree of language learning or reading impairment may be present,[28] and neuropsychological testing often reveals deficits in executive functions, although these deficits can oft be overcome through early intervention.[29] Too, delays in motor development may occur, which can be addressed through occupational and physical therapies.[xxx] XXY males may sit upwards, crawl, and walk after than other infants; they may too struggle in school, both academically and with sports.[17] It is estimated that 10% of men with Klinefelter syndrome are autistic.[31]

Klinefelter males have lower verbal retentiveness capacity, and moderate to grave defects in elaborating and processing complex thoughts and ideas.[32] Boosted abnormalities include impaired attention, reduced organizational and planning abilities, deficiencies in judgment (often presented equally a tendency to interpret non-threatening stimuli as threatening), and dysfunctional decision processing.[32]

Compared to individuals with a normal number of chromosomes, males affected past Klinefelter'south syndrome display behavioral abnormalities. These are phenotypically displayed equally college level of anxiety and depression,[33] and mood dysregulation.[34] [35] These neurocognitive abnormalities are virtually likely due to the presence of the extra X chromosome, as indicated by studies carried out on animal models conveying an extra X chromosome.[fifteen]

[edit]

Birth of a jail cell with karyotype XXY due to a nondisjunction effect of one Ten chromosome from a Y chromosome during meiosis I in the male

Birth of a jail cell with karyotype XXY due to a nondisjunction outcome of one Ten chromosome during meiosis II in the female

Klinefelter syndrome is non an inherited condition.[36] Maternal age is the only known risk factor.[11] Women at 40 years have a 4 times college risk for a child with Klinefelter syndrome than women aged 24 years.[37] [38]

The extra chromosome is retained considering of a nondisjunction issue during paternal meiosis I, maternal meiosis I, or maternal meiosis 2 (gametogenesis). The relevant nondisjunction in meiosis I occurs when homologous chromosomes, in this example the 10 and Y or two X sex chromosomes, fail to separate, producing a sperm with an X and a Y chromosome or an egg with two X chromosomes. Fertilizing a normal (X) egg with this sperm produces an XXY offspring (Klinefelter). Fertilizing a double X egg with a normal sperm also produces an XXY offspring (Klinefelter).[39]

Another mechanism for retaining the extra chromosome is through a nondisjunction result during meiosis 2 in the egg. Nondisjunction occurs when sister chromatids on the sex chromosome, in this case an X and an X, fail to separate. An XX egg is produced, which when fertilized with a Y sperm, yields an XXY offspring. This XXY chromosome arrangement is one of the most common genetic variations from the XY karyotype, occurring in nigh one in 500 live male person births.[17] See as well Triple X syndrome.

In mammals with more i X chromosome, the genes on all but ane X chromosome are not expressed; this is known every bit Ten inactivation. This happens in XXY males, as well as normal XX females.[40] However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes accept respective genes on their Y chromosome and are capable of being expressed.[41]

Variations [edit]

The condition 48,XXYY or 48,XXXY occurs in one in 18,000–50,000 male births. The incidence of 49,XXXXY is 1 in 85,000 to 100,000 male births.[42] These variations are extremely rare. Additional chromosomal textile tin can contribute to cardiac, neurological, orthopedic, and other anomalies.[ citation needed ]

Near fifteen–20%[43] of males with KS may have a mosaic 47,XXY/46,XY constitutional karyotype and varying degrees of spermatogenic failure. Oft, symptoms are milder in mosaic cases, with regular male secondary sex characteristics and testicular book even falling within typical adult ranges.[43] Some other possible mosaicism is 47,XXY/46,Twenty with clinical features suggestive of KS and male phenotype, but this is very rare. Thus far, only nearly 10 cases of 47,XXY/46,XX have been described in literature.[44]

Analogous XXY syndromes are known to occur in cats—specifically, the presence of calico or tortoiseshell markings in male cats is an indicator of the relevant abnormal karyotype. Equally such, male cats with calico or tortoiseshell markings are a model organism for KS, because a color gene involved in cat tabby coloration is on the Ten chromosome.[45]

Random X-inactivation [edit]

Women typically have two 10 chromosomes, with half of their X chromosomes switching off early in embryonic development. The same happens with people with Klinefelter'due south, including in both cases a pocket-sized proportion of individuals with a skewed ratio betwixt the two Xs.[46]

Diagnosis [edit]

The standard diagnostic method is the assay of the chromosomes' karyotype on lymphocytes. A small blood sample is sufficient as test fabric. In the past, the observation of the Barr body was common practice, as well.[47] To investigate the presence of a possible mosaicism, analysis of the karyotype using cells from the oral mucosa is performed. Physical characteristics of a Klinefelter syndrome can be tall stature, low body pilus, and occasionally an enlargement of the breast. Ordinarily, a modest testicle book of 1–5 ml per testicle (standard values: 12–30 ml) occurs.[48] During puberty and adulthood, depression testosterone levels with increased levels of the pituitary hormones FSH and LH in the blood tin indicate the presence of Klinefelter syndrome. A spermiogram can too be part of the further investigation. Often. an azoospermia is present, or rarely an oligospermia.[xi] Furthermore, Klinefelter syndrome can be diagnosed equally a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling). About 10% of KS cases are found by prenatal diagnosis.[49]

The symptoms of KS are often variable, so a karyotype assay should be ordered when small testes, infertility, gynecomastia, long arms/legs, developmental filibuster, speech/linguistic communication deficits, learning disabilities/academic bug, and/or behavioral problems are present in an individual.[9]

Treatment [edit]

As the genetic variation is irreversible, no causal therapy is available. From the onset of puberty, the existing testosterone deficiency can be compensated past appropriate hormone-replacement therapy.[50] Testosterone preparations are bachelor in the form of syringes, patches, or gel. If gynecomastia is nowadays, the surgical removal of the chest may exist considered for both the psychological reasons and to reduce the chance of breast cancer.[51]

The use of behavioral therapy can mitigate whatsoever language disorders, difficulties at school, and socialization. An approach by occupational therapy is useful in children, especially those who have dyspraxia.[52]

Infertility treatment [edit]

Methods of reproductive medicine, such equally intracytoplasmic sperm injection (ICSI) with previously conducted testicular sperm extraction (TESE), have led to men with Klinefelter syndrome producing biological offspring.[53] By 2010, over 100 successful pregnancies have been reported using IVF engineering science with surgically removed sperm material from males with KS.[54]

Prognosis [edit]

The lifespan of individuals with Klinefelter syndrome appears to be reduced by around ii.1 years compared to the general male population.[55] These results are still questioned information, are not absolute, and demand further testing.[56]

Epidemiology [edit]

This syndrome, evenly distributed in all indigenous groups, has a prevalence of 4 subjects per every 10,000 males in the general population.[37] [57] [58] [59] Nonetheless, it is estimated that only 25% of the individuals with Klinefelter syndrome are diagnosed throughout their lives.[50] The rate of Klinefelter syndrome amidst infertile males is 3.i%. The syndrome is too the primary crusade of male hypogonadism.[60]

History [edit]

The syndrome was named later American endocrinologist Harry Klinefelter, who in 1942 worked with Fuller Albright and E. C. Reifenstein at Massachusetts General Hospital in Boston, Massachusetts, and commencement described it in the same year.[19] [61] The business relationship given by Klinefelter came to exist known as Klinefelter syndrome as his name appeared start on the published paper, and seminiferous tubule dysgenesis was no longer used. Considering the names of all three researchers, it is sometimes also called Klinefelter–Reifenstein–Albright syndrome.[62] In 1956, Klinefelter syndrome was found to event from an extra chromosome.[fourteen] Plunkett and Barr found the sex chromatin body in jail cell nuclei of the body. This was further antiseptic equally XXY in 1959 by Patricia Jacobs and John Anderson Strong.[63] The first published study of a man with a 47,XXY karyotype was by Patricia Jacobs and John Strong at Western Full general Hospital in Edinburgh, Scotland, in 1959.[63] This karyotype was found in a 24-yr-quondam human being who had signs of KS. Jacobs described her discovery of this first reported human or mammalian chromosome aneuploidy in her 1981 William Allan Memorial Award accost.[64] Lili Elbe, one of the early on recipients of sexual activity reassignment surgery, may have had Klinefelter syndrome.[65] [ better source needed ] [66] John Randolph of Roanoke had a genetic condition, possible Klinefelter syndrome, that left him beardless and with a soprano prepubescent vocalism throughout his life.[67]

Meet besides [edit]

  • Aneuploidy
  • Intersex
  • Turner syndrome
  • XYY syndrome
  • XXYY syndrome
  • Taurodontism
  • Trisomy X

References [edit]

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Farther reading [edit]

  • Virginia Isaacs Cover (2012). Living with Klinefelter Syndrome, Trisomy X and 47,XYY: A Guide for Families and Individuals Affected by Extra Ten and Y Chromosomes. ISBN978-0-615-57400-4.

External links [edit]

  • Klinefelter syndrome at Curlie

Source: https://en.wikipedia.org/wiki/Klinefelter_syndrome

Posted by: hovisherivink44.blogspot.com

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