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Cognitive, behavioural and psychiatric phenotypes associated with steroid sulfatase deficiency

Trent, Simon ORCID: and Davies, William ORCID: 2013. Cognitive, behavioural and psychiatric phenotypes associated with steroid sulfatase deficiency. World Journal of Translational Medicine 2 (1) , pp. 1-12. 10.5528/wjtm.v2.i1.1

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The enzyme steroid sulfatase (STS) desulfates a variety of steroid compounds thereby altering their activity. STS is expressed in the skin, and its deficiency in this tissue has been linked to the dermatological condition X-linked ichthyosis. STS is also highly expressed in the developing and adult human brain, and in a variety of steroidogenic organs (including the placenta and gonads); therefore it has the potential to influence brain development and function directly and/or indirectly (through influencing the hormonal milieu). In this review, we first discuss evidence from human and animal model studies suggesting that STS deficiency might predispose to neurobehavioural abnormalities and certain psychiatric disorders. We subsequently discuss potential mechanisms that may underlie these vulnerabilities. The data described herein have potential implications for understanding the complete spectrum of clinical phenotypes associated with X-linked ichthyosis, and may indicate novel pathogenic mechanisms underlying psychological dysfunction in developmental disorders such as attention deficit hyperactivity disorder and Turner syndrome.

Item Type: Article
Date Type: Publication
Status: Published
Schools: MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Neuroscience and Mental Health Research Institute (NMHRI)
Subjects: B Philosophy. Psychology. Religion > BF Psychology
Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Additional Information: Acetylcholine; Aggression; Attention; Atten - tion deficit hyperactivity disorder; Dehydroepiandros - terone sulfate; Impulsivity; Hippocampus; Postpartum psychosis; Serotonin
Publisher: Baishideng Publishing Group
ISSN: 2220-6132
Funders: Medical Research Council United Kingdom New Investigator Research Grant (G0900636) to Davies
Date of First Compliant Deposit: 30 March 2016
Last Modified: 29 Sep 2023 01:44

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