Klinefelter's syndrome

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Klinefelter's syndrome

 [klīn´fel-terz]
a condition in males characterized by small testes, with fibrosis and hyalinization of seminiferous tubules, impairment of function and clumping of Leydig cells, and an increase in urinary gonadotropins, associated with an abnormality of the sex chromosomes. It is associated typically with an XXY chromosome complement.
Klinefelter's syndrome. Redrawn from Damjanov, 2000.
Miller-Keane Encyclopedia and Dictionary of Medicine, Nursing, and Allied Health, Seventh Edition. © 2003 by Saunders, an imprint of Elsevier, Inc. All rights reserved.

Klinefelter syndrome

A syndrome with a 47, XXY chromosome complement, in which the subjects are phenotypically male but have seminiferous tubule dysgenesis, elevated plasma and urinary gonadotropins, variable gynecomastia, eunuchoid habitus and possibly female secondary sex characteristics. Some patients are chromosomal mosaics, with two or more cell lines of different chromosome constitution.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

Klinefelter's syndrome

A male bodily disorder caused by one or more additional X (sex) chromosomes. Instead of the normal X and Y sex chromosomes, men with Klinefelter's syndrome have an XXY configuration. This has a feminizing effect. The penis and testicles are small and there may be female breast development and diminished sexual interest (libido). Homosexuality and transvestism are common. The diagnosis can easily be confirmed by chromosomal analysis. Hormonal and plastic surgical treatment can help. (Harry Fitch Kleinfelter, American physician, b. 1912)
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005

Klinefelter's syndrome

a human chromosomal abnormality in which there is an extra X-chromosome making a complement of 44 autosomes plus XXY (47 in all). The affected individuals are male (showing the SEX DETERMINATION role of the Y-chromosomes) but with much reduced fertility, and a number of female secondary sexual characteristics, such as breasts, often occur. About 1 in 1000 liveborn males are affected by this condition, which arises from NONDISJUNCTION in one or other parent, more probably the female where there is a distinct positive age effect (as in DOWN'S SYNDROME).
Collins Dictionary of Biology, 3rd ed. © W. G. Hale, V. A. Saunders, J. P. Margham 2005

Klinefelter's syndrome

Chromosomal abnormality characterized by small testes and male infertility.
Gale Encyclopedia of Medicine. Copyright 2008 The Gale Group, Inc. All rights reserved.

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References in periodicals archive ?
Klinefelter's syndrome and its variants: a hormonal and chromosomal study.
Klinefelter's syndrome (47, XXY) represents the most common karyotype abnormality in azoospermia and severe male factor infertility, followed by Y chromosome terminal deletions (Yq-) and structural autosomal abnormalities (Krausz, 2011).
For example, in a cytogenetic study on a large Dutch infertile population (1792 infertile men) as low as 72 cases (4%) with chromosomal abnormalities were reported and Klinefelter's syndrome (either pure or mosaic form) was found in just 12 patients (0.6%) (6).
"One thing the jury did not know was that you were suffering from Klinefelter's Syndrome, and a professor has prepared a very full report which indicates why you may have gone wrong in the early stages of your treatment.
Almost straight away I went down to the local library and read up on virtually everything on Klinefelter's."
I was diagnosed 12 years ago with Klinefelter's syndrome, which has as a symptom low testosterone ("Unproven Elixir," SN: 5/10/03, p.
Leydig cell tumor of the testis associated with Klinefelter's syndrome and Osgood-Schlatter disease.
Among the 155 couples with unconsummated marriages, physical findings among the men included five previously undiagnosed primary adenomas and an equal number of previously undiagnosed cases of phimosis, along with one case of Klinefelter's syndrome and one case of hypogonadism.
We present the case of a man with recurrent leg ulcers who was recognized as hypogonadal and was ultimately given the diagnosis of Klinefelter's syndrome (XXY) at age 47.
Gynecomastia also may occur in conjunction with cancer of the testes or adrenal glands, cirrhosis of the liver, chronic renal dialysis or a chromosomal disorder known as Klinefelter's syndrome.
Chromosomal problems such as Down's syndrome, Turner's syndrome, or Klinefelter's syndrome are not inherited in the sense that a parent must either have the condition or be a carrier of the corresponding genes; rather, such conditions result from errors in the transmission of genetic material.
While researchers debate the causes, the American Cancer Society says doctors agree that male breast cancer is attributable to certain risk factors, such as abnormal levels of estrogen; Klinefelter's syndrome, a male genetic disorder; gynecomastia, enlargement of male breast tissue; obesity; radiation exposure; and age (the average victim is 64).