A Case of Anorexia Nervosa with Klinefelter's Syndrome

1986 ◽  
Vol 149 (5) ◽  
pp. 659-660 ◽  
Author(s):  
C. G. Hindler ◽  
D. L. Norris
Keyword(s):  
Anorexia Nervosa ◽  
Klinefelter’S Syndrome ◽  
Klinefelter's Syndrome ◽  
Atypical Anorexia Nervosa

This is the first reported case of anorexia nervosa in association with Klinefelter's syndrome. Although the patient was initially diagnosed as suffering from ‘atypical’ anorexia nervosa, Klinefelter's syndrome was cytogenetically proven and other organic pathology ruled out.

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 Overcontrolled, undercontrolled, and resilient personality styles among patients with eating disorders

2021 ◽  
Vol 9 (1) ◽  
Author(s):  
Martina Isaksson ◽  
Ata Ghaderi ◽  
Martina Wolf-Arehult ◽  
Mia Ramklint
Keyword(s):  
Eating Disorders ◽  
Anorexia Nervosa ◽  
Clinical Group ◽  
Personality Style ◽  
Personality Styles ◽  
Dsm 5 ◽  
Significant Difference ◽  
Poor Treatment ◽  
Atypical Anorexia Nervosa ◽  
Poor Treatment Outcome

Abstract Background Personality has been suggested to be an important factor in understanding onset, maintenance, and recovery from eating disorders (ED). The objective of the current study was to evaluate personality style in different ED diagnostic groups as classified in the Diagnostic and Statistical Manual of Mental Disorders, Fifth edition (DSM-5). Methods The overcontrolled, undercontrolled, and resilient personality styles were compared in four groups of patients with EDs: anorexia nervosa restricting (ANr) (n = 34), anorexia nervosa binge eating/purging (ANbp) (n = 31), atypical anorexia nervosa (AAN) (n = 29), and bulimia nervosa (BN) (n = 76). These groups were compared with a group of patients with borderline personality disorder (BPD) (n = 108), and a non-clinical group (NC) (n = 444). Patient data were collected at two outpatient clinics in Uppsala, Sweden. NC control data were collected through convenience sampling. Participants filled out questionnaires assessing personality style. Results The main findings were more pronounced overcontrol reported by the ANr and AAN groups compared with the BN, BPD, and NC groups, and no significant difference in resilience between the ED and the NC groups. Considerable variability of over- and undercontrol was also found within each group. Conclusions The results replicate previous findings when EDs are classified according to current diagnostic criteria (DSM-5). Taking personality styles into account may improve our understanding of certain characteristics in EDs, such as social deficits and rigidity that are attributed to poor treatment outcome.

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
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