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Klinefelter Syndrome

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781. The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome Full Text available with Trip Pro

The effect of testosterone replacement treatment on immunological features of patients with Klinefelter's syndrome Although the effects of androgen deficiency in the immune system have long been appreciated, little is known about the immunological features of patients with Klinefelter's syndrome (KS). On the other hand, interest in androgens as a possible treatment for some autoimmune diseases is growing. In the present study, some immunological parameters were evaluated in 26 patients with KS

2000 Clinical and experimental immunology

782. Vasculitis in Klinefelter's syndrome. Full Text available with Trip Pro

Vasculitis in Klinefelter's syndrome. 1466610 1993 01 21 2018 11 13 0003-4967 51 11 1992 Nov Annals of the rheumatic diseases Ann. Rheum. Dis. Vasculitis in Klinefelter's syndrome. 1266-7 Kim W W Sequeira W W eng Case Reports Letter England Ann Rheum Dis 0372355 0003-4967 IM Adult Humans Klinefelter Syndrome complications Male Skin Diseases complications Vasculitis complications 1992 11 1 1992 11 1 0 1 1992 11 1 0 0 ppublish 1466610 PMC1012477 Lancet. 1967 Mar 25;1(7491):648-51 4163925 Arch

1992 Annals of the Rheumatic Diseases

783. Naloxone administration does not affect gonadotropin secretion in patients with Klinefelter's syndrome. (Abstract)

Naloxone administration does not affect gonadotropin secretion in patients with Klinefelter's syndrome. Plasma LH and FSH were measured every 20 min in a group of patients with Klinefelter's syndrome before and after placebo or naloxone administration (8 mg iv as a bolus followed by an infusion of 4 mg/h for 4 h) both in baseline conditions (N = 6) and during treatment with testosterone enanthate (200 mg im every two weeks; N = 4). The mean LH areas measured during saline infusion in baseline (...) conditions (7888 +/- 758 IU/l per min mean +/- SEM) and during testosterone treatment (5042 +/- 2039 IU/l per min) were not significantly different from those measured during naloxone infusion (baseline 8317 +/- 818 IU/l per min; during testosterone treatment 5395 +/- 2007 IU/l per min). Similar results were obtained for FSH. These data suggest that in patients with Klinefelter's syndrome, the opioidergic inhibition of gonadotropin release is lacking and is not restored by testosterone replacement

1987 Acta endocrinologica

784. The behavioural effects of testosterone undecanoate in adult men with Klinefelter's syndrome: a controlled study. (Abstract)

The behavioural effects of testosterone undecanoate in adult men with Klinefelter's syndrome: a controlled study. The behavioural effects of exogenous testosterone in men with marginally low circulating androgen levels were investigated. Four adult men with Klinefelter's syndrome, low normal testosterone levels and normal sexual activity and interest were given testosterone undecanoate (TU 160 mg daily by mouth; Organon International) and placebo using a double blind cross-over design. A modest

1982 Clinical endocrinology Controlled trial quality: uncertain

785. Occurrence of Duchenne dystrophy in Klinefelter's syndrome. Full Text available with Trip Pro

Occurrence of Duchenne dystrophy in Klinefelter's syndrome. A boy with Duchenne muscular dystrophy and facial dysmorphism in conjunction with Klinefelter's genotype 47XXY is presented; this is an unusual situation with two genetic errors evolving over two generations. Karyotyping should be considered in boys with Duchenne muscular dystrophy who have unusual features.

1993 Archives of Disease in Childhood

786. Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. Full Text available with Trip Pro

Triphalangeal thumb with delta phalanx in a case of Klinefelter's syndrome. We report a case of Klinefelter's syndrome owing to maternal meiotic error associated with triphalangeal thumb and delta phalanx bilaterally. There are no previous reports of similar cases and triphalangism with delta phalanx abnormalities of both thumbs might therefore be considered a further, but rare, manifestation of this aneuploidy.

1991 Journal of Medical Genetics

787. A case of Klinefelter's syndrome with 47,Xi(Xq)Y karyotype Full Text available with Trip Pro

A case of Klinefelter's syndrome with 47,Xi(Xq)Y karyotype 7189784 1980 08 15 2018 11 13 0022-2593 17 2 1980 Apr Journal of medical genetics J. Med. Genet. A case of Klinefelter's syndrome with 47, Xi(Xq)Y karyotype. 152-5 Ponzio G G DeMarchi M M Gallone G G Fonzo D D Carbonara A O AO eng Case Reports Journal Article England J Med Genet 2985087R 0022-2593 3XMK78S47O Testosterone IM Adult Chromosome Aberrations Dermatoglyphics Female Humans Karyotyping Klinefelter Syndrome drug therapy genetics

1980 Journal of Medical Genetics

788. Incontinentia pigmenti in a boy with Klinefelter's syndrome. Full Text available with Trip Pro

Incontinentia pigmenti in a boy with Klinefelter's syndrome. A boy with the cutaneous lesions of incontinentia pigmenti is described. Chromosomal analysis revealed the 47,XXY karyotype of Klinefelter's syndrome. Since incontinentia pigmenti trait is usually lethal in males, the possibility of the second X chromosome protecting against fetal death is discussed.

1987 Journal of Medical Genetics

789. Klinefelter's syndrome in adolescence. Full Text available with Trip Pro

Klinefelter's syndrome in adolescence. Twelve boys with Klinefelter's syndrome (47,XXY) identified by sex chromatin screening at birth were examined at between ages 16 and 18 years, together with 12 controls matched for social class and birth order from the same newborn population. Physical examination, psychometric assessment, personality, and degree of psychosexual development were assessed without knowledge of the karyotype. Anthropometry showed increased leg length and decreased head

1982 Archives of Disease in Childhood

790. Klinefelter's syndrome in adolescence. Full Text available with Trip Pro

Klinefelter's syndrome in adolescence. 7149767 1983 01 19 2018 11 13 1468-2044 57 11 1982 Nov Archives of disease in childhood Arch. Dis. Child. Klinefelter's syndrome in adolescence. 887-8 Laron Z Z Topper E E eng Letter England Arch Dis Child 0372434 0003-9888 AIM IM Adolescent Humans Klinefelter Syndrome physiopathology Male Puberty Sperm Count 1982 11 1 1982 11 1 0 1 1982 11 1 0 0 ppublish 7149767 PMC1628036 J Clin Endocrinol Metab. 1971 May;32(5):671-2 5577887 Fertil Steril. 1978 Jun;29(6

1982 Archives of Disease in Childhood

791. Hypostatic ulcers in 47,XXY Klinefelter's syndrome Full Text available with Trip Pro

Hypostatic ulcers in 47,XXY Klinefelter's syndrome 6842542 1983 06 17 2018 11 13 0022-2593 20 2 1983 Apr Journal of medical genetics J. Med. Genet. Hypostatic ulcers in 47,XXY Klinefelter's syndrome. 100-1 Verp M S MS Simpson J L JL Martin A O AO eng HD02841 HD NICHD NIH HHS United States HD11021 HD NICHD NIH HHS United States HD8-2855 HD NICHD NIH HHS United States Case Reports Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. England J Med Genet 2985087R (...) 0022-2593 IM Adult Aged Humans Klinefelter Syndrome complications Leg blood supply Leg Ulcer etiology genetics Male 1983 4 1 1983 4 1 0 1 1983 4 1 0 0 ppublish 6842542 PMC1049008 Acta Endocrinol (Copenh). 1967;54:Suppl 113:5+ 6071572 Hautarzt. 1969 Oct;20(10):468-9 5372166 Br Med J. 1978 Jul 8;2(6130):95-6 667581 Lancet. 1981 Dec 19-26;2(8260-61):1414 6118776 J Ment Defic Res. 1980 Mar;24(1):1-16 7381930 Angiologia. 1980 Sep-Oct;32(5):197-204 7425384 Clin Exp Dermatol. 1979 Jun;4(2):223-6 498575

1983 Journal of Medical Genetics

792. Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. Full Text available with Trip Pro

Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. 7191751 1981 01 29 2018 11 13 0007-1447 281 6240 1980 Aug 30 British medical journal Br Med J Androgen production in a patient with Klinefelter's syndrome and choriocarcinoma. 585-6 Weetman A P AP Borysiewicz L K LK eng Case Reports Journal Article England Br Med J 0372673 0007-1447 0 Chorionic Gonadotropin AIM IM Adult Choriocarcinoma complications metabolism Chorionic Gonadotropin biosynthesis blood Humans (...) Karyotyping Klinefelter Syndrome complications metabolism Male 1980 8 30 1980 8 30 0 1 1980 8 30 0 0 ppublish 7191751 PMC1713874 J Urol. 1976 Dec;116(6):838-40 1034031 Am J Med. 1979 Mar;66(3):515-8 571203 J Clin Endocrinol Metab. 1978 Nov;47(5):1144-7 263344

1980 British medical journal

793. Congenital hypothyroidism and Klinefelter's syndrome. Full Text available with Trip Pro

Congenital hypothyroidism and Klinefelter's syndrome. 7205914 1981 05 13 2018 11 13 0022-2593 17 4 1980 Aug Journal of medical genetics J. Med. Genet. Congenital hypothyroidism and Klinefelter's syndrome. 326-7 Harris F F eng Letter England J Med Genet 2985087R 0022-2593 IM Autoimmune Diseases complications Child Congenital Hypothyroidism Humans Klinefelter Syndrome complications Male Thyroiditis complications 1980 8 1 1980 8 1 0 1 1980 8 1 0 0 ppublish 7205914 PMC1048589 Arch Dis Child. 1967

1980 Journal of Medical Genetics

794. Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. Full Text available with Trip Pro

Becker muscular dystrophy (BMD) and Klinefelter's syndrome: a possible cause of variable expression of BMD within a pedigree. We describe a man with Becker muscular dystrophy whose weakness was minimal in contrast to that of his more severely affected nephews. This man had a Klinefelter karyotype (47,XXY) and his mild symptoms may be attributed to him being heterozygous for the muscular dystrophy gene. This is the first report of a person with both Klinefelter's syndrome and Becker muscular

1989 Journal of Medical Genetics

795. A study of brothers with Klinefelter syndrome. Full Text available with Trip Pro

A study of brothers with Klinefelter syndrome. 9279771 1997 10 06 2018 11 13 0022-2593 34 8 1997 Aug Journal of medical genetics J. Med. Genet. A study of brothers with Klinefelter syndrome. 702 Woods C G CG Noble J J Falconer A R AR eng Case Reports Letter England J Med Genet 2985087R 0022-2593 IM Child Humans Klinefelter Syndrome genetics Male Nuclear Family Pedigree 1997 8 1 1997 8 1 0 1 1997 8 1 0 0 ppublish 9279771 PMC1051044 Lancet. 1967 Dec 30;2(7531):1424 4170083 Clin Genet. 1975 Jul;8

1997 Journal of Medical Genetics

796. Frequency of XY Sperm Increases with Age in Fathers of Boys with Klinefelter Syndrome Full Text available with Trip Pro

Frequency of XY Sperm Increases with Age in Fathers of Boys with Klinefelter Syndrome With increasing availability of drugs for impotence and advanced reproductive technologies for the treatment of subfertility, more men are fathering children at advanced ages. We conducted a study of the chromosomal content of sperm of healthy men aged 24-57 years to (a) determine whether father's age was associated with increasing frequencies of aneuploid sperm including XY, disomy X, disomy Y, disomy 21 (...) , and sperm diploidy, and (b) examine the association between the frequencies of disomy 21 and sex-chromosomal aneuploidies. The study group consisted of 38 fathers of boys with Klinefelter syndrome (47, XXY) recruited nationwide, and sperm aneuploidy was assessed using multicolor X-Y-21 sperm FISH ( approximately 10,000 sperm per donor). Paternal age was significantly correlated with the sex ratio of sperm (Y/X; P=.006) and with the frequency of XY sperm (P=.02), with a clear trend with age by decades (P

2001 American Journal of Human Genetics

797. Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome Full Text available with Trip Pro

Survival of Male Patients with Incontinentia Pigmenti Carrying a Lethal Mutation Can Be Explained by Somatic Mosaicism or Klinefelter Syndrome Incontinentia pigmenti (IP), or "Bloch-Sulzberger syndrome," is an X-linked dominant disorder characterized by abnormalities of skin, teeth, hair, and eyes; skewed X-inactivation; and recurrent miscarriages of male fetuses. IP results from mutations in the gene for NF-kappaB essential modulator (NEMO), with deletion of exons 4-10 of NEMO accounting

2001 American Journal of Human Genetics

798. Partners of men with Klinefelter syndrome can benefit from assisted reproductive technologies. (Abstract)

Partners of men with Klinefelter syndrome can benefit from assisted reproductive technologies. To report the birth of a healthy female infant from a father with nonmosaic Klinefelter syndrome (KS) and document the experience of men with KS undergoing assisted conception.Retrospective.Private IVF center.Twelve couples with male factor infertility due to Klinefelter syndrome undergoing assisted reproduction treatment.Controlled ovarian hyperstimulation, testicular sperm extraction

2003 Fertility and Sterility

799. An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome. (Abstract)

An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter's syndrome. To determine whether there is an increased incidence of autosomal aneuploidies in spermatozoa from a subject with nonmosaic Klinefelter's syndrome.Analysis of sperm nuclei by fluorescence in situ hybridization.Hospital-based laboratory for reproductive biology.A patient with Klinefelter's syndrome and a 46,XY fertile man were analyzed.The sperm samples were prepared for fluorescence (...) that there is an increased incidence of autosomal aneuploidies for chromosomes 13, 18, and 21 in the spermatozoa from the patient with Klinefelter's syndrome than in the general population. Furthermore, most of the studies have also shown an increased frequency of autosomal aneuploidy in the spermatozoa from 46,XY males with oligozoospermia or oligoasthenoteratozoospermia. Thus, the offspring of the patients with Klinefelter's born by intracytoplasmic sperm injection may be at higher risk of autosomal aneuploidy due

2003 Fertility and Sterility

800. Aberrant recombination and the origin of Klinefelter syndrome. (Abstract)

Aberrant recombination and the origin of Klinefelter syndrome. Trisomy is the most commonly identified chromosome abnormality in humans, occurring in at least 4% of all clinically recognized pregnancies; it is the leading known cause of pregnancy loss and of mental retardation. Over the past decade, molecular studies have demonstrated that most human trisomies originate from errors at maternal meiosis I. However, Klinefelter syndrome is a notable exception, as nearly one-half of all cases (...) derive from paternal non-disjunction. In this review, the data on the origin of sex chromosome trisomies are summarized, focusing on the 47,XXY condition. Additionally, the results of recent genetic mapping studies are reviewed that have led to the identification of the first molecular correlate of autosomal and sex chromosome non-disjunction; i.e. altered levels and positioning of meiotic recombinational events.

2003 Human Reproduction Update

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