3 edition of Klinefelter"s syndrome in childhood, adolescence, and youth found in the catalog.
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Klinefelter syndrome (KS) is a condition that occurs in males when they have an extra X chromosome. Some males with KS have no obvious signs or symptoms while others may have varying degrees of cognitive, social, behavioral, and learning difficulties. Adults with Klinefelter syndrome may also have primary hypogonadism (decreased testosterone. Klinefelter syndrome (KS) is a condition that occurs in men who have an extra X chromosome. The syndrome can affect different stages of physical, language, and social development. The most common symptom is infertility. Boys may be taller than other boys their age, with more fat around the belly. After puberty, KS boys may have.
ADVERTISEMENTS: In this article we will discuss about: 1. History of Klinefelter’s Syndrome 2. Origin of Klinefelter’s Syndrome 3. Symptoms 4. Ascertainment and Phenotype 5. Cytogenetic Findings 6. Frequency. History of Klinefelter’s Syndrome: 1. In , Klinefelter, Refenstein and Albright found nine men with small testes, aspermia, elevated urinary gonadotrophins and . Klinefelter Syndrome (47, XXY) is a chromosomal variation in males in which one extra X chromosome is present, resulting in a XXY sex chromosome karyotype. The extra X chromosome can affect physical, developmental, behavioral, and cognitive functioning. Common physical features may include tall stature, reduced muscle tone, small testes.
How is Klinefelter syndrome treated? If testosterone levels are abnormally low, treatment with testosterone during and after adolescence may help many of the psychological symptoms and may increase secondary sex characteristics. If breast enlargement is a long-term problem, it may be treated surgically. Achieving fertility is more difficult. Klinefelter's syndrome is a genetic condition affecting boys and men that occurs as a result of the presence of one or more extra X chromosomes. The condition is typically characterised by tall stature, reduced fertility and development of breast tissue, although some patients have no clinical features other than reduced or absent sperm count.
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Klinefelter's Syndrome in Childhood, Adolescence, and Youth: A Genetic, Clinical, Developmental, Psychiatric, and Psychological Study: Medicine Cited by: 3. Get this from a library. Klinefelter's syndrome in childhood, adolescence, and youth: a genetic, clinical, developmental, psychiatric, and psychological study.
[Kurt Sørensen]. Klinefelter syndrome, or 47,XXY, males have a normal number of primordial germ cells in utero, which degenerate through childhood probably due to a fault of communication between Sertoli and germ cells.
53 Roughly 50% of Klinefelter syndrome occurrence is of paternal origin 54 with a possible increase in 46,XY sperm frequency as paternal age. The KS Story is the culmination of twelve years ongoing study and an emotional journey through the workings of the congenital chromosome condition Klinefelter’s Syndrome (KS).
The book was created primarily as a conduit to respected support groups, medical specialists and research units, with a chapter devoted to further study, including a. Klinefelter syndrome (KS), also known as 47, XXY is the set of symptoms that result Klinefelters syndrome in childhood two or more X chromosomes in males.
The primary features are infertility and small poorly functioning testicles. Often, symptoms may be subtle and many people do not realize they are affected.
Sometimes, symptoms are more prominent and may include weaker muscles, greater height, Causes: Two or more X chromosomes in males. Adolescents with Klinefelter syndrome may have a more difficult time in high school than others. Symptoms like gynecomastia, lack of athletic ability, and language difficulties can make these adolescents the target of ridicule and scorn by students who do not understand.
Adolescents with Klinefelter syndrome may benefit from counseling. Klinefelter Syndrome is also called "47, XXY syndrome" Some Klinefelter patients Klinefelters syndrome in childhood 49, or 50 chromosomes. All of the extra chromosomes are Xs.
Males with several extra X chromosomes may have distinctive facial features, retardation, deformities of bony structures, and even more disordered development of male features. Adolescents With Klinefelter Syndrome Other Considerations for Adolescents With Klinefelter Syndrome Adolescence and the high school years can be difficult for boys with Klinefelter syndrome and their families, particularly in neighborhoods and schools where the emphasis is on athletic ability and physical prowess.
Klinefelter syndrome (KS) is the most common genetic form of male hypogonadism, but overt phenotype becomes evident only after puberty. During childhood, and even during early puberty, pituitary-gonadal function in 47,XXY subjects is relatively normal, but from midpuberty onwards, FSH and LH levels increase to hypergonadotropic levels, inhibin B decreases to undetectable.
The book is designed for physicians, medical students preparing for Board examinations, medical researchers, and patients who want to become familiar with research dedicated to Klinefelter syndrome.
If your time is valuable, this book is for you. First, you will not waste time searching the Internet while missing a lot of relevant information.3/5(1).
Klinefelter Syndrome DANIEL J. WATTENDORF, MAJ, MC, USAF, and MAXIMILIAN MUENKE, M.D. are nonspecific during childhood; thus, the diagnosis commonly is made during adolescence for File Size: KB. Klinefelter syndrome is a sex chromosome disorder in boys and men that results from the presence of an extra X chromosome in cells.
People typically have 46 chromosomes in each cell, two of which are the sex chromosomes. Females have two X chromosomes (46,XX), and males have one X and one Y chromosome (46,XY).
Most often, boys and men with. Klinefelter syndrome puts males at greater risk of breast cancer, some other cancers, and some other diseases like type 2 diabetes, varicose veins and problems with blood vessels, problems with sexual function, and osteoporosis (weak bones) later in life.
Most boys with Klinefelter syndrome can have sex when they become men, usually with the. Klinefelter syndrome in adolescence: onset of puberty is associated with accelerated germ cell depletion.
Wikström AM(1), Raivio T, Hadziselimovic F, Wikström S, Tuuri T, Dunkel L. Author information: (1)Hospital for Children and Adolescents, University of Cited by: Klinefelter’s syndrome is a male sex chromosome disorder affecting 1 in males across all ethnic groups.
Men with Klinefelter’s syndrome possess an additional X chromosome, resulting in a 47,XXY genotype. The additional X chromosome comes from sporadic errors during sperm or egg formation. In an individual with Klinefelter’s syndrome, the extra X chromosome forms [ ].
Klinefelter syndrome and cancer: from childhood to adulthood. in childhood or youth, while others are characteristic of Cryopreservation of testicular sperm during adolescence is. Introduction. 47,XXY, or Klinefelter syndrome, was initially described in by Dr.
Harry Klinefelter, an adult endocrinologist, who identified a cohort of post-pubertal males presenting with infertility, hypogonadism, gynecomastia and increased gonadotropin levels ().An extra X chromosome in males was found to be the cause of Klinefelter syndrome in ().Cited by: Klinefelter syndrome, polysomy X, is the most common congenital cause of primary hypogonadism and often presents during adolescence.
As many as 70 percent of patients with Klinefelter syndrome have ›. The clinical features are not present until mid to late adolescence, so it is technically correct to refer to fetuses, newborns, and children as havXXY Reserve the term Klinefelter syndrome for affected adolescents and adults; Diagnosis.
Twenty four boys with Klinefelter syndrome, 18 of whom were diagnosed prepubertally, were observed until adulthood. Onset of puberty, as judged from testicular enlargement and pubic hair development, occurred between 11 to 14 years in the above 18 patients.
By the age of 17 pubic hair, penile length and height had reached the adult stage in all patients, but arrest of testicular Cited by:. Boys and men with the chromosomal disorder Klinefelter syndrome, or XXY male, have a new resource for treatment and medical management.
The Johns Hopkins Klinefelter Syndrome Center is the only multidisciplinary program of its kind in the country serving adult males, says endocrinologist Adrian Dobs, the center’s director.(A comprehensive clinic in .Klinefelter’s Syndrome may be diagnosed prenatally or during early childhood, as an adolescent during puberty, or as an adult when there are recognized fertility problems (Bock, ).
Klinefelter’s Syndrome can be diagnosed prenatally through amniocentesis or chorionic villus sampling (Bock, ).Klinefelter syndrome can affect both physical and cognitive development. According to the National Human Genome Research Institute, Klinefelter syndrome is found in about 1 .