Koro Presenting in the Prodromal Phase of Schizophrenia in a Patient With Klinefelter Syndrome

2021 ◽  
pp. 263183182110479
Author(s):  
Sivapriya Vaidyanathan ◽  
Karthick Subramanian ◽  
Vikas Menon
Keyword(s):  
X Chromosome ◽  
Sexual Differentiation ◽  
Klinefelter Syndrome ◽  
Treatment Strategies ◽  
Young Male ◽  
Psychosocial Interventions ◽  
Prodromal Phase ◽  
Neuroendocrine Mechanisms ◽  
Neuropsychiatric Manifestations ◽  
Anxiety Depression

Klinefelter syndrome (KS), a disorder of abnormal sexual differentiation, is characterized by the presence of an excess X chromosome in males (47, XXY). KS is associated with various neuropsychiatric manifestations such as anxiety, depression, schizotypy, and frank psychosis. Psychosocial factors including stigma and poor coping or psychobiological comorbidities due to neuroendocrine mechanisms have been posited to explain these symptoms. We report the case of a young male with an anxious temperament who presented with the culture-bound neurosis of Koro, which evolved into schizophrenia. The patient also had gender dysphoria and significant social anxiety. The report highlights the implications of anxious traits leading to developing culture-bound neurosis in the prodromal phase of schizophrenia in a patient with KS and its influence on treatment strategies. Integrated psychopharmacological, psychological, and psychosocial interventions are required to promote recovery in patients with KS.

Klinefelter Syndrome with Fabry Disease – a Case of Nondisjunction of the X-chromosome with Sex-linked Recessive Mutation

2014 ◽  
Vol 23 (12) ◽  
pp. 1149-1152
Author(s):  
Victoria J. Sadick ◽  
Michael J. Fietz ◽  
Michel C. Tchan ◽  
Pramesh Kovoor ◽  
Liza Thomas ◽  
...  
Keyword(s):  
Fabry Disease ◽  
X Chromosome ◽  
Klinefelter Syndrome ◽  
Recessive Mutation

scholarly journals Neuropsychiatric symptoms in Parkinson's disease: aetiology, diagnosis and treatment

2020 ◽  
Vol 26 (6) ◽  
pp. 333-342 ◽  
Author(s):  
Shoned Jones ◽  
Kelli M. Torsney ◽  
Lily Scourfield ◽  
Katie Berryman ◽  
Emily J. Henderson
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Neuropsychiatric Symptoms ◽  
Treatment Strategies ◽  
Current Treatment ◽  
Motor Disorder ◽  
Dopamine Dysregulation Syndrome ◽  
Disease Aetiology ◽  
Neuropsychiatric Manifestations ◽  
Assessment Scales

SUMMARYHistorically, Parkinson's disease was viewed as a motor disorder and it is only in recent years that the spectrum of non-motor disorders associated with the condition has been fully recognised. There is a broad scope of neuropsychiatric manifestations, including depression, anxiety, apathy, psychosis and cognitive impairment. Patients are more predisposed to delirium, and Parkinson's disease treatments give rise to specific syndromes, including impulse control disorders, dopamine agonist withdrawal syndrome and dopamine dysregulation syndrome. This article gives a broad overview of the spectrum of these conditions, describes the association with severity of Parkinson's disease and the degree to which dopaminergic degeneration and/or treatment influence symptoms. We highlight useful assessment scales that inform diagnosis and current treatment strategies to ameliorate these troublesome symptoms, which frequently negatively affect quality of life.

scholarly journals Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage

2020 ◽  
Vol 117 (9) ◽  
pp. 4864-4873 ◽  
Author(s):  
Xianglong Zhang ◽  
David Hong ◽  
Shining Ma ◽  
Thomas Ward ◽  
Marcus Ho ◽  
...  
Keyword(s):  
X Chromosome ◽  
Network Effects ◽  
Molecular Mechanisms ◽  
Klinefelter Syndrome ◽  
Gene Dosage ◽  
Differentially Expressed ◽  
Global Network ◽  
Potential Candidate ◽  
Gene Promoters ◽  
Inactive Genes

In both Turner syndrome (TS) and Klinefelter syndrome (KS) copy number aberrations of the X chromosome lead to various developmental symptoms. We report a comparative analysis of TS vs. KS regarding differences at the genomic network level measured in primary samples by analyzing gene expression, DNA methylation, and chromatin conformation. X-chromosome inactivation (XCI) silences transcription from one X chromosome in female mammals, on which most genes are inactive, and some genes escape from XCI. In TS, almost all differentially expressed escape genes are down-regulated but most differentially expressed inactive genes are up-regulated. In KS, differentially expressed escape genes are up-regulated while the majority of inactive genes appear unchanged. Interestingly, 94 differentially expressed genes (DEGs) overlapped between TS and female and KS and male comparisons; and these almost uniformly display expression changes into opposite directions. DEGs on the X chromosome and the autosomes are coexpressed in both syndromes, indicating that there are molecular ripple effects of the changes in X chromosome dosage. Six potential candidate genes (RPS4X,SEPT6,NKRF,CX0rf57,NAA10, andFLNA) for KS are identified on Xq, as well as candidate central genes on Xp for TS. Only promoters of inactive genes are differentially methylated in both syndromes while escape gene promoters remain unchanged. The intrachromosomal contact map of the X chromosome in TS exhibits the structure of an active X chromosome. The discovery of shared DEGs indicates the existence of common molecular mechanisms for gene regulation in TS and KS that transmit the gene dosage changes to the transcriptome.

scholarly journals Random X chromosome inactivation in patients with Klinefelter syndrome

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Kenichi Kinjo ◽  
Tomoko Yoshida ◽  
Yoshitomo Kobori ◽  
Hiroshi Okada ◽  
Erina Suzuki ◽  
...  
Keyword(s):  
X Chromosome ◽  
Klinefelter Syndrome ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation

scholarly journals The Parent-of-Origin of the Extra X Chromosome May Differentially Affect Psychopathology in Klinefelter Syndrome

2010 ◽  
Vol 68 (12) ◽  
pp. 1156-1162 ◽  
Author(s):  
Hilgo Bruining ◽  
Sophie van Rijn ◽  
Hanna Swaab ◽  
Jacques Giltay ◽  
Wendy Kates ◽  
...  
Keyword(s):  
X Chromosome ◽  
Klinefelter Syndrome ◽  
Parent Of Origin

Dementia – a diagnostic and therapeutic challenge

Phlebologie ◽  
2017 ◽  
Vol 46 (04) ◽  
pp. 227-230
Author(s):  
K. Weyer
Keyword(s):  
Cognitive Impairment ◽  
Treatment Strategies ◽  
Psychosocial Interventions ◽  
Pharmacological Therapy ◽  
Assessment Tools ◽  
Care Givers ◽  
Age Related ◽  
Diagnosis Of Dementia ◽  
Mental Abilities ◽  
Brief Cognitive Assessment

SummaryDementia is characterized as a progredient loss of memory, thinking and socials skills leading to need for help in everyday activities till complete dependence on help. Beside decline of mental abilities patients also develop non-cognitive symptoms like euphoria, depression or agitation. In contrast “mild cognitive impairment” describes limited cognitive function but obtained independence in activities of daily life. The prevalence of dementia is age-related, showing an average prevalence of 4 % in 65–70 year old people. While primary dementias are still incurable, there are also dementia-like conditions which can potentially be reversed by appropriate treatment. Of great importance for the diagnosis of dementia is the assessment of the medical history both given by the patient himself as well as family members or care givers. Brief cognitive assessment tools can help to detect possible cognitive impairment. The diagnostic workup also includes a clinical examination, laboratory tests and CT/ MRI Scan. Treatment strategies depend on pathogenesis and leading symptoms. Psychosocial interventions and pharmacological therapy are used.

Treatment Innovations of Opiate Dependence Treatment

2009 ◽  
Vol 24 (S1) ◽  
pp. 1-1
Author(s):  
W. van den Brink
Keyword(s):  
Partial Agonist ◽  
Treatment Strategies ◽  
Oral Morphine ◽  
Treatment Compliance ◽  
Psychosocial Interventions ◽  
Opiate Dependence ◽  
Treatment Modalities ◽  
List Type ◽  
Number Of Patients ◽  
New Treatment

Opiate dependence is a serious psychiatric disorder with substantial suffering for the patient, his environment and society as a whole. Currently available treatments include abstinence oriented treatment with naltrexone and substitutian treatments with methadone and buprenorphine. However, treatment compliance with naltrexone is very low resulting in low effectiveness. In addition, existing substituation treatments only show moderate effectiveness resulting in a large number of patients showing continued drug use and serious psychological, somatic and functional impairment.New treatment strategies involve:a.the development of long acting opiate antagonists (naltrexone) and partial agonist (buprenorphine) to improve treatment compliance and treatment retention,b.new substitution options such as slow release oral morphine (SROM), oral diacetylmorphine (heroin) and inhalable and injectable diacetyl morphine (heroin assisted treatment: HAT).Recently, a new approach using neurosurgical and neuromodulatory techniques has been advocated to help treatment refractory opiate dependent patients. Finally, certain combinations of farmacotherapy and psychosocial interventions have shown promise for future improvements.This presentation reviews the evidence of existing treatments for opiate dependence and explores the new treatment options for patients not fully responsive to the existing treatment modalities.

Neuroendocrine Mechanisms and the Aetiology of Male and Female Homosexuality

1981 ◽  
Vol 139 (4) ◽  
pp. 341-345 ◽  
Author(s):  
Malcolm J. MacCulloch ◽  
John L. Waddington
Keyword(s):  
Sexual Differentiation ◽  
Male Homosexuality ◽  
Men And Women ◽  
Object Choice ◽  
Brain Sexual Differentiation ◽  
Neuroendocrine Mechanisms ◽  
Female Homosexuality ◽  
Normal Men ◽  
Sexual Object

SummaryTheories on the classification and aetiology of male homosexuality are reviewed, particularly recent hypotheses on the role of prenatal hormonal influences on brain sexual differentiation and subsequent sexual object choice in the male. Female as well as male brain sexual differentiation may be hormonally determined, and so primary homosexuality in both sexes may be due to abnormalities in foetal exposure to hormones, leading first to physical mis-differentiation and later to homosexual behaviour in genetically and phenotypically normal men and women.

Sign in / Sign up

Export Citation Format

Share Document