Some new aspects of the Klinefelter syndrome
Ned Tijdschr Geneeskd. 2006 Dec 9;
de Ronde W.
VU Medisch Centrum, afd. Endocrinologie, De Boelelaan III7, 108I HV Amsterdam. p.deronde@vumc.
Klinefelter syndrome (KS) is the most frequent form of male hypogonadism. Still, at least 50% ofcases are not diagnosed, partly because of the great variation in the clinical symptoms, partly because physicians are unfamiliar with KS. Timely treatment with testosterone can contribute to a more positive body image and, consequently, to a healthier psychosexual development in men with KS. Men with KS experience significantly more health problems and an increased risk ofa malignancy. New reproductive techniques no longer automatically mean that men with KS will remain infertile. Treatment with testosterone is in principle life-long to prevent osteoporosis and loss of muscle mass and strength.
PMID: 17194004 [PubMed - indexed for MEDLINE]
Infertility in the Klinefelter syndrome
Andrologie, Klinik fur Dermatologie, Venerologie und Allergologie der Universitat Leipzig. email@example.com
The Klinefelter syndrome is characterized by one or more extra X-chromosomes, deficient androgens, increased gonadotropines, fibrosis and hyalinization of the seminiferous tubules, small testes, gynecomastia, disproportionately long legs, sparse facial hair, and diminished sexual activity. The incidence of Klinefelter syndrome in the general population is 0.1-0.2%, some 3% among infertile patients, and approximately 11% in patients with aspermia. In very rare cases, these patients may manifest focal residua of spermatogenesis. Employing the ICSI method (intracytoplasmic sperm injection into an oocyte), a patient may be helped to father a child. There is, however an increased risk of such a child being born with a chromosomal aberration.
PMID: 16320651 [PubMed - indexed for MEDLINE]
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Prostate cancer following testosterone replacement in klinefelter syndrome
Z J Surg. 2007 Jan-Feb
Stuckey BG. Department of Radiation Oncology, Sir Charles Gairdner Hospital, Nedlands, WA, Australia.
Klinefelter syndrome is a common cause of hypogonadism. Testosterone replacement therapy has beneficial effects on bone, muscle and psychosexual function. However, it may remove the relative protection from adenocarcinoma of prostate, which is otherwise rare in uncomplicated Klinefelter syndrome. We report the case of a 55-year-old man with Klinefelter syndrome who developed prostate cancer after only 7 years of androgen supplementation. Androgen deprivation therapy was complicated by the presence of testosterone implants. The patient was treated with androgen blockade followed by radiation therapy. We recommend that serum prostate specific antigen (PSA) and digital rectal examinations be carried out during, as well as before androgen replacement.
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An OTC deficiency 'phenocopy' in association with Klinefelter syndrome.
J Inherit Metab Dis. 2007 Feb
Division of Chemical Pathology, University of Cape Town and NHLS, Cape Town, South Africa.
Late-onset urea cycle disorder in a 20-month-old boy is unusually associated with Klinefelter syndrome with a 47XXY karyotype. We record the typical clinical and biochemical findings of ornithine transcarbamylase (OTC) deficiency in a young boy with a short history of recurrent vomiting, self mutilating behaviour, lethargy, ataxia and seizures. Laboratory studies showed hyperammonaemia and orotic aciduria, with normal citrulline and other urea cycle amino acids. Unfortunately, a liver biopsy for OTC activity measurement was refused by the parents. A rapid reversal of phenotype was seen on the introduction of a low-protein diet with accompanying benzoate and phenylbutyrate administration. Linkage studies suggested the inheritance of two X chromosomes, which was confirmed by karyotype analysis. Sequencing of all exons and immediate splice site regions revealed no sequence alterations in these sections of the OTC gene. A search for skewing of X-inactivation in the liver was not possible but we did show a random pattern of X-inactivation in leukocytes. The possibility of maternal X chromosome iso-disomy in our patient was discounted by microsatellite analysis, which revealed the inheritance of two independent X chromosomes. Mutation analysis in the OTC gene has shown that approximately 20% of patients with liver biopsy confirmed OTC deficiency do not have mutations in the coding or immediate splice-site sequences of this gene. Their classification as OTC phenocopies remains speculative, awaiting clarification of the underlying DNA alteration. We report on the novel association of OTC deficiency and Klinefelter syndrome with the additional interest of a probable unusual genetic defect underlying the OTC abnormality.
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Rheumatic diseases and Klinefelter's syndrome.
Autoimmun Rev. 2006 Nov
National Institute of Rheumatic Diseases, Nabr I Krasku 4, 921 01 Piestany, Slovak Republic. firstname.lastname@example.org
The Klinefelter's syndrome (KS) is not a rare gonosomal aberration occurring in males. The disorder is characterized by microorchidism. Another typical although not constant symptom of this disorder is gynecomastia with almost normal male secondary sex characteristics. The etiology of the disease remains unexplained. Previous studies have shown that this disorder is a genetic chromosomal abnormality associated with the presence of one additional chromosome due to abnormal division.
Thus, the affected individual has 47 chromosomes with the resulting chromosomal constellation of XXY (classical form) or 46,XY/47,XXX (mosaic form). Large population studies estimate the incidence of KS at 1:1000 live born male babies [Hammerton JL, Canning N, Ray M, et al. A cytogenic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Clin Genet 1975;8:223-243].
The locomotor apparatus of persons affected by the syndrome is characterized by acromicria, clinodactyly, concrescence of thoracal vertebral bodies and spinal osteoporosis in not only individuals of older age but also in younger persons.
In 1960s and 1970s, reports were published on the concurrence of the KS with autoimmune diseases. The aim of our article is to discuss case reports on the KS published by authors from our institute as well as to present an overview of the reports published so far, mainly abroad.