URINARY TESTOSTERONE, OESTROGEN PRODUCTION RATE AND URINARY OESTROGEN IN CHROMATIN POSITIVE KLINEFELTER'S SYNDROME

1970 ◽  
Vol 63 (3) ◽  
pp. 499-504 ◽  
Author(s):  
J. L. Gabrilove ◽  
G. L. Nicolis ◽  
R. U. Hausknecht
Keyword(s):  
Urinary Excretion ◽  
Production Rate ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Positive Form

ABSTRACT In seven patients with the chromatin positive form of Klinefelter's syndrome, the urinary excretion of testosterone was markedly decreased. In contrast the oestrogen production rate and the urinary excretion of oestrogen were normal. These findings indicate that there is an altered conversion of androgen to oestrogen in patients with this disorder.

BIOSYNTHESIS OF TESTOSTERONE AND OESTROGENS IN VITRO BY THE TESTICULAR TISSUE FROM PATIENTS WITH KLINEFELTER'S SYNDROME

1971 ◽  
Vol 66 (4) ◽  
pp. 737-744 ◽  
Author(s):  
Dinesh C. Sharma ◽  
J. Lester Gabrilove
Keyword(s):  
Normal Control ◽  
Testicular Tissue ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Positive Form ◽  
Control Subjects ◽  
End Products ◽  
Testis Tissue

ABSTRACT Testis tissue from patients with the chromatin positive form of Klinefelter's syndrome was incubated with 17α-hydroxyprogesterone and testosterone. The ratio of oestrogen to testosterone in the end products of the incubation utilizing 17α-hydroxyprogesterone as substrate was 5 to 10 times the ratio obtained in similar investigations employing testis from normal control subjects. An increased conversion into oestrogen of testosterone utilized as substrate was also observed in the in vitro studies of testis obtained from the patients with Klinefelter's syndrome. These data lend support to the thesis that in the chromatin positive form of Klinefelter's syndrome there is an increased conversion of testosterone into oestrogen in the testis.

A Controlled Study of the Psychopathology and Physical Measurements of Klinefelter's Syndrome

1969 ◽  
Vol 115 (521) ◽  
pp. 443-448 ◽  
Author(s):  
H. Hunter
Keyword(s):  
Urinary Excretion ◽  
Follicle Stimulating Hormone ◽  
Clinical Syndrome ◽  
Controlled Study ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Physical Measurements ◽  
Stimulating Hormone

Klinefelter, Reifenstein and Albright (13) in 1942 collected and described nine cases of a new clinical syndrome, later given the eponym Klinefelter's Syndrome, which appeared at puberty in males and was characterized by gynaecomastia, hypogonadism, aspermatogenesis, increased follicle-stimulating hormone (F.S.H.) and normal or low 17-ketosteroid urinary excretion.

Klinefelter's syndrome (47,XXY) in male systemic lupus erythematosus

2019 ◽  
Author(s):  
Hela Marmouch ◽  
Haythem Jenzri ◽  
Houssem Mrabet ◽  
Hamza Fekih ◽  
Ines Khochtali
Keyword(s):  
Systemic Lupus Erythematosus ◽  
Lupus Erythematosus ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Systemic Lupus

Proteomic analysis of human testicular interstitial fluid reflects disordered spermatogenesis in Klinefelter's syndrome

2014 ◽  
Author(s):  
Robert I McLachlan ◽  
Andrew N Stephens ◽  
Adam Rainczuk ◽  
Caroline Foo ◽  
Mark R Condina ◽  
...  
Keyword(s):  
Proteomic Analysis ◽  
Interstitial Fluid ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome

scholarly journals A case report and mechanism analysis of a normal phenotype mosaic 47, XXY complicated by paternal iUPD (9) who had a normal PGD result

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Dan Li ◽  
Yun Wang ◽  
Nan Zhao ◽  
Liang Chang ◽  
Ping Liu ◽  
...  
Keyword(s):  
Case Report ◽  
Karyotype Analysis ◽  
Snp Array ◽  
Uniparental Disomy ◽  
Comparative Genomic ◽  
Klinefelter’S Syndrome ◽  
Mechanism Analysis ◽  
Klinefelter's Syndrome ◽  
Preimplantation Genetic Testing ◽  
First Case

Abstract Background Uniparental disomy (UPD) refers to the situation in which two copies of homologous chromosomes or part of a chromosome originate from the one parent and no copy is supplied by the other parent. Case presentation Here, we reported a woman whose karyotype was 46, XX, t (1;17)(q42;q21), has obtained 5 embryos by intracytoplasmic sperm injection (ICSI) after one cycle of in vitro fertility (IVF). After microarray-based comparative genomic hybridization (array-CGH) for preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR), two embryos were balanced, one balanced embryo was implanted and the patient successfully achieved pregnancy. Amniocentesis was performed at the 19th week of gestation for karyotype analysis and single nucleotide polymorphism (SNP)-array test. The result of karyotype analysis was: mos 47, XXY [19]/46, XY [81]; SNP-array results revealed 46, XY, iUPD (9) pat. After full genetic counseling for mosaic Klinefelter’s syndrome and paternal iUPD (9), the couple decided to continue pregnancy, and the patient gave birth to a healthy boy. The newborn is now 3.5 years old, and developed normally. This case will provide counseling evidences of paternal iUPD (9) for doctors. Conclusions This is the first case report of paternal iUPD9 with mosaic Klinefelter’s syndrome, and no abnormality has been observed during the 3.5-year follow-up. Further observation is required to determine whether the imprinted genes on the chromosomes are pathogenic and whether recessive pathogenetic genes are activated.

Restrictive Defect in Klinefelter's Syndrome

CHEST Journal ◽  
1982 ◽  
Vol 82 (1) ◽  
pp. 132 ◽  
Author(s):  
Basil Varkey ◽  
Akira Funahashi
Keyword(s):  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Restrictive Defect

scholarly journals Incontinentia pigmenti in a boy with Klinefelter's syndrome.

1987 ◽  
Vol 24 (7) ◽  
pp. 439-441 ◽  
Author(s):  
A D Ormerod ◽  
M I White ◽  
E McKay ◽  
A W Johnston
Keyword(s):  
Incontinentia Pigmenti ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome
Sign in / Sign up

Export Citation Format

Share Document