They have successful and meaningful careers and professions. [1] Often, these symptoms are noticed only at puberty. The situation in the germ cells seems to be different and more complex since the X inactivation in these cells follows a distinct pathway [48, 49]. Indeed, the classical phenotype described above has been characterized only on the basis of a small number of affected patients, precisely those seeking medical consultation and probably displaying the most severe degree of clinical features. In literature, lower than normal serum T concentrations (<12nmol/L) is found in variable percentages (6585%) of adults with KS, although serum T can sometimes be in the normal range [5]. Klinefelter syndrome is a chromosomal condition in boys and men that can affect physical and intellectual development. Thus genes in this region are inherited in an autosomal rather than a strictly sex-linked manner [64]. KS is associated with several clinical conditions coming from both the genetic abnormalities and hypogonadism. [1] published a report on 9 men who had enlarged breasts, sparse facial and body hair, small testes, and an inability to produce sperm. Lauren Foster is now a transgender person though she was born as a man. However, the extra X chromosome in KS comes from the father about one-half of the time.3. Thus, the normalization of adrenal androgens revealed clinical features due to testosterone deficiency and KS [95]. and transmitted securely. In particular, it has been reported that KS patients with a paternal origin of the supernumerary X chromosome have a later onset and slower pubertal progression [26]. The major signs and symptoms of Klinefelter Syndrome (KS) have been well characterized since the first description of the disease [1]. The genetic background for the KS is based on sex chromosome non-disjunction, which leads to the presence of extra X chromosome/s. The number of X-linked CNVs in KS patients was also higher with respect to that found in control females and males. Every chromosome contains hundreds to thousands of your genes. Klinefelter's syndrome is a genetic condition that only affects males. Kinjo K, Yoshida T, Kobori Y, Okada H, Suzuki E, Ogata T, Miyado M, Fukami M. "What are common symptoms of Klinefelter syndrome (KS)? The degree of symptoms differs based on the amount of testosterone needed for a specific age or developmental stage and the amount of testosterone the body makes or has available. In addition, some genetic aspects related to the phenotype remains undetermined. Some authors also hypothesized that androgen deficiency in the first trimester of life (during mini-puberty) might contribute to these skeletal features, but clear evidence is still lacking [17] (Table1). Helena Mangs A, Morris BJ. When serum testosterone is below normal, obesity and gynoid fat distribution are common in men with KS [16], in addition reduced muscle strength may develop [5, 7, 10, 11]. The more the genetic expression, androgen deficiency, and androgen receptor sensitivity are worse, the more the phenotype will be severe [13] (Fig. Klinefelter occurs in one out of every 500 to 1,000 newborn males. Dimorphism in sex chromatin pattern of Sertoli cells in adults with Klinefelters syndrome: correlation with 2 types of Sertoli-cell-only tubules. Daniele Santi SS, Rochira V. Is serum estradiol really increased in patients with Klinefeler syndrome? Armstrong SJ, Hulten MA, Keohane AM, Turner BM. The role of hypogonadism in Klinefelter syndrome. Berletch JB, Yang F, Xu J, Carrel L, Disteche CM. Careers. If you have a healthy female cat without Klinefelter's Syndrome, you can care for her like you would any cat. Temple CM, Sanfilippo PM. At puberty, only few patients develop overt hypogonadism, with evident signs (horizontal pubic line, scant body, axillary, and facial hair, poor muscle mass) and symptoms of under-virilization and/or delayed puberty [1, 5, 7, 10, 11]. Role of the pseudoautosomal region in sex-chromosome pairing during male meiosis: meiotic studies in a man with a deletion of distal Xp. Penny GD, Kay GF, Sheardown SA, Rastan S, Brockdorff N. Requirement for Xist in X chromosome inactivation. The definitive diagnosis is karyotype testing that shows the extra X chromosome. Klinefelter syndrome results from a genetic abnormality in which males have an extra copy of the X chromosome. Sex chromosome tetrasomy and pentasomy. The pseudoautosomal regions (PAR1 and PAR2) are short homologous regions between the X and Y chromosomes in mammals. Thus, any increase in gene dosage in these cell types will only concern genes that escape the X chromosome inactivation. As a library, NLM provides access to scientific literature. Osteoporosis. Signs and symptoms appearance depend also on patients age. Approximately 10% of XXY males have gynecomastia noticeable enough that they may choose to have cosmetic surgery. Language and speech disabilities increases with the increase of supernumerary X chromosome and seem to contribute decreasing of 1516 points of intelligence quotient (IQ) per each extra X chromosome [15]. Klinefelter syndrome is a genetic disease that causes males to be born with an extra copy of the X chromosome. They are equally or less expressed in the liver and kidney of, respectively, 40,XX or 40,XY mice, while they are more expressed in the brain of the 41,XXY mice compared to the normal karyotyped mice, either male or female. Bhasin S, Cunningham GR, Hayes FJ, Matsumoto AM, Snyder PJ, Swerdloff RS, Montori VM. Although several genes are escaping inactivation, the Barr body (sex chromatin) in female cells is microscopically identifiable and represents the visible inactivated X chromosome [31]. Coordinators: Giancarlo Balercia (Ancona), Marco Bonomi (Milano), Aldo Calogero (Catania), Giovanni Corona (Bologna), Andrea Fabbri (Roma), Alberto Ferlin (Padova), Felice Francavilla (LAquila), Vito Giagulli (Conversno, Bari), Fabio Lanfranco (Torino), Mario Maggi (Firenze), Daniela Pasquali (Napoli), Rosario Pivonello (Napoli), Alessandro Pizzocaro (Milano), Antonio Radicioni (Roma), Vincenzo Rochira (Modena), Linda Vignozzi (Firenze); Members: Giacomo Accardo (Napoli), Biagio Cangiano (Milano), Rosita A. Condorelli (Catania), Giuliana Cordeschi (LAquila), Settimio DAndrea (LAquila), Antonella Di Mambro (Padova), Daniela Esposito (Napoli), Carlo Foresta (Padova), Sandro Francavilla (LAquila), Mariano Galdiero (Napoli), Andrea Garolla (Padova), Lara Giovannini (Ancona), Antonio R.M. [11] Furthermore, Klinefelter syndrome can be diagnosed as a coincidental prenatal finding in the context of invasive prenatal diagnosis (amniocentesis, chorionic villus sampling). Humans have 46 chromosomes, which contain all of a person's genes and DNA. The main issue concerns how to improve a precocious diagnosis in order to reduce the number of patients who remains undiagnosed and to avoid the delay in the diagnosis. In the latter, an almost lin-ear increase in height and developmental delay was ob- . The genes that escape inactivation are mapping prevalently on the short arm of the X chromosome (Xp). The aim of this review is to provide an update on both genetic and clinical phenotype and their interrelationships. Klinefelter syndrome (KS) is a genetic condition resulting from an additional X chromosome in phenotypic males (47,XXY). Accordingly, KS remains largely underdiagnosed (only 25% of the expected number of patients are correctly diagnosed and only a minority before the puberty onset) and the majority of patients are often diagnosed during adulthood. Expression of selected genes escaping from X inactivation in the 41, XX(Y)* mouse model for Klinefelters syndrome. More recently another study confirmed the association with the CAG repeats and the phenotypic variability of the KS patients (positive correlation of the length of CAG stretch with final height and span and negative with cholesterol and hematocrit level) without any significant evidence either of preferential inactivation of the shorter allele or the correlation between the skewed X inactivation and the clinical manifestation of the analyzed KS series [13]. Klinefelter syndrome results when a boy is born with at least 1 extra X chromosome. Shamsuddin AK, Tang CK. An advanced maternal, and possibly paternal, age has been reported as a risk factor for KS. 49, XXXXY) [5, 7, 10, 11]. Salido EC, Yen PH, Mohandas TK, Shapiro LJ. This content does not have an English version. Meschede DHJ. Carrel L, Willard HF. Speech disabilities remain confined in the range of normal general cognitive abilities [92]. Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others. More recent studies have provided also evidence of lower INSL3 levels in comparison with normal subjects [88]. Carrel L, Cottle AA, Goglin KC, Willard HF. Klinefelter syndrome is one of the most common chromosomal disorders, occurring in one to two per 1,000 live male births. These individuals have positive SRY (testis-determining factor). Linden MG, Bender BG, Robinson A. Delayed or incomplete sexual development during puberty, Sparse or absent facial and body hair. A case of a 51-year-old adult man affected by both KS and congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency, the first causing androgen deficiency, the latter leading to androgen excess was helpful in disclosing testosterone-dependent signs and symptoms in KS [95]. This is written as XXY. Klinefelter syndrome is a genetic condition but it is not inherited. KS males may experience some of the following learning and language-related challenges:9. This article explains Klinefelter syndrome, including its symptoms, causes, and treatment. Another mechanism for retaining the extra chromosome is through a nondisjunction event during meiosis II in the egg. Testosterone replacement therapy is effective in improving symptoms related to androgen deficiency, but not all other features related to the genetic abnormality (Table1). Barr bodies in testis with Klinefelter syndrome. "The William Allan Memorial Award address: human population cytogenetics: the first twenty-five years", A 1000-year-old case of Klinefelter's syndrome diagnosed by integrating morphology, osteology, and genetics, "A Woman with a Sword? [6] XXY males have a ~15-fold higher risk of developing breast cancer than typical,[12] but still lower than that of females. To date, 24 genes have been assigned to the PAR1 region [52, 64], being half of them with a known function. ", "What are the treatments for symptoms in Klinefelter syndrome (KS)? Even though rare in KS [7, 21], genital anomalies (micropenis, undescended testis, bifid scrotum and hypospadia) might present at birth, but if they are due to the effects of supernumerary X chromosome/s or of androgen deficiency during fetal life remains still to be determined [5] (Table1). [5], An estimated 60% of pregnancies with fetuses having Klinefelter syndrome abort. The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype. Nielsen, J., & Wohlert, M. (1991). Data on serum testosterone and estradiol in healthy prepubertal children are scanty, and there are no studies investigating sex steroids secretion in KS during infancy [24]. Thus, testes volume does not increase at puberty while the penis and secondary sexual characteristics progress in a normal fashion through all the pubertal stages. [55] These results are still questioned data, are not absolute, and need further testing. [54], The lifespan of individuals with Klinefelter syndrome appears to be reduced by around 2.1 years compared to the general male population. Hainstock MR, Gruchala NE, Fike N, Samson RA, Klewer SE, Barber BJ. The site is secure. Aberrant recombination and the origin of Klinefelter syndrome. This content does not have an Arabic version. 48,XXXY or 48,XXYY), structurally abnormal X chromosome (e.g. Prenatal and postnatal prevalence of Klinefelter syndrome: a national registry study. Burgoyne PS, Mahadevaiah SK, Sutcliffe MJ, Palmer SJ. ", "Is there a cure for Klinefelter syndrome (KS)? Longitudinal studies of inhibin B levels in boys and young adults with Klinefelter syndrome. Nordenstrm A, Nordenskjld A, Frisn L, Wedell A, Ritzn M. Lakartidningen. [50] The rate of Klinefelter syndrome among infertile males is 3.1%. Werler et al. Serum inhibin B levels reflect Sertoli cell function in normal men and men with testicular dysfunction. 1 Usually, every cell in a male's body, except sperm and red blood cells, contains 46 chromosomes. Caster Semenya 6. Spatz A, Borg C, Feunteun J. X-chromosome genetics and human cancer. Klinefelter's Syndrome, a genetic condition characterized by an additional X chromosome in males, presents various challenges such as low sperm count, small testicles, reduced sex drive, increased height, weakened bones, and diminished muscle mass. Epub 2007 Apr 4. Between 25% and 85% of all males with KS have some kind of learning or language-related problem, which makes it more likely that they will need some extra help in school. The androgen receptor (AR) gene, which mapped to Xq11.2-12, is of physiological importance in the testis and may play a particular role in differences of the KS phenotype. Bone mineral density in Klinefelter syndrome is reduced and primarily determined by muscle strength and resorptive markers, but not directly by testosterone. Lauren Foster 11. KS patients have a phenotype which is extremely variable, but without any obvious facial dysmorphology that make them indistinguishable from the boys with normal karyotype [5]. A part from the aneuploidy per se and the inter-individual genetic variation, several genetic mechanisms may play as other possible modulators of the variability of the phenotype observed in KS patients. sexual dysfunction), comorbidities associated with KS such as diabetes, metabolic syndrome, osteoporosis and cardiovascular diseases usually appear during adulthood and increase with advancing age [16, 22, 89]. [6] Enlarged breasts may be removed by surgery. The .gov means its official. Cognitive and neurological aspects of sex chromosome aneuploidies. . Accordingly, after the age of 25, about 80% of men with KS complain of symptoms related to overt hypogonadism (decreased libido, erectile dysfunction) [5, 24]. The error that produces the extra chromosome occurs at random, meaning the error is not hereditary (pronounced huh-RED-i-ter-ee) or passed down from parent to child. Osteoporos Int J Estab Result Coop Between Eur Found Osteoporos Natl Osteoporos Found USA. Salbenblatt JA, Bender BG, Puck MH, Robinson A, Faiman C, Winter JS. Males have an X and a Y sex chromosome (XY). depression, paraphilia, autistic and obsession-compulsive trait) seem to be more common in KS, but these data need to be replicated on a large scale in order to be confirmed [93, 94], their relationship with hypogonadism remaining unknown [92]. [5] Intelligence is usually average, but reading difficulties and problems with speech are more common. The site is secure. Male 41, XXY* mice as a model for klinefelter syndrome: hyperactivation of leydig cells. Boys with Klinefelter syndrome might have some or all of these physical signs: a taller, less muscular body than other boys their age. Distinguishing symptoms related to androgen deficiency from that due to chromosomal abnormalities is crucial in order to improve the outcome of testosterone replacement therapy, to establish how the disease should be monitored during the follow-up, and to inform the patient on what the expected results are [17]. Bethesda, MD 20894, Web Policies Yang F, Babak T, Shendure J, Disteche CM. The classic form of KS, which is present in the 8090% of the cases, is defined by a 47,XXY karyotype resulting from the aneuploidy of the sex chromosomes, whereas higher-grade aneuploidies (e.g. [41] However, in XXY males, a few genes located in the pseudoautosomal regions of their X chromosomes have corresponding genes on their Y chromosome and are capable of being expressed. The syndrome is also the main cause of male hypogonadism. Klinefelter syndrome is characterised by the presence of an extra X chromosome in male individuals leading to a 47XXY karyotype and rarely to 46XY/47XXY Mosaicism; it is the most common sex chromosomal aneuploidy and the most common genetic cause of Azoospermia (Kanakis GA et al., 2018 and Gravholt CH et al.,2018). Older pregnant women have a higher risk of passing on chromosomal genetic disorders. Other tests may include: Semen count Marchini A, Hacker B, Marttila T, Hesse V, Emons J, Weiss B, Karperien M, Rappold G. BNP is a transcriptional target of the short stature homeobox gene SHOX. Smyth CM, Bremner WJ. Anawalt BD, Bebb RA, Matsumoto AM, Groome NP, Illingworth PJ, McNeilly AS, Bremner WJ. Phone: +39(0)59-3962453, Fax: +39(0)59-3961335, Klinefelter syndrome, KS, Testosterone, Hypergonadotropic hypogonadism, Chromosome abnormalities, Azoospermia, Male infertility. 2). Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic Klinefelter patients. For instance, boys with KS who have language difficulties might hold back socially and could use help building social relationships. Zitzmann M, Depenbusch M, Gromoll J, Nieschlag E. X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients. Hence, the impact of the disease during fetal life and the early period after birth (including the so-called minipuberty) remains an open issue. Skip to content Care at Mayo Clinic Prompt educational and psychological supports might prevent any difficulties in their language, scholastic and neuropsychological difficulties; the start of the testosterone replacement therapy as soon as the patients need it allows them to avoid the long-term consequences of the hypogonadism; semen or testicular tissue cryopreservation could also be performed as soon as possible, before the testicular damage starts, probably at puberty. [51], The use of behavioral therapy can mitigate any language disorders, difficulties at school, and socialization. Women who get pregnant after age 35 are slightly more likely to have a boy with this syndrome than younger women. Jamie Lee Curtis 8. [15] Mice can also have the XXY syndrome, making them a useful research model. [20][61] The account given by Klinefelter came to be known as Klinefelter syndrome as his name appeared first on the published paper, and seminiferous tubule dysgenesis was no longer used. 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Aa, klinefelter syndrome in females KC, Willard HF with non-mosaic Klinefelter patients but not directly by testosterone L Cottle... Sertoli-Cell-Only tubules TK, Shapiro LJ these cell types will only concern genes that escape inactivation are mapping prevalently the... Markers, but reading difficulties and problems with speech are more common in one to two 1,000! With fetuses having Klinefelter syndrome is a genetic condition but it is not inherited Jr Klinefelter.... 50 ] the rate of Klinefelter syndrome ( KS ) removed by surgery Klinefelter patients as compared with non-mosaic patients.
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