Cognitive, behavioural and psychiatric phenotypes associated with steroid sulfatase deficiency

Article English OPEN
Trent, Simon ; Davies, William (2013)

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.
  • References (184)
    184 references, page 1 of 19

    Endocr Rev 2005; 26: 1 1-202 [PMID: 15561802 DOI: 10.1210/

    er.200 -0003]

    J Steroid Biochem Mol Biol 200 ; 105: 115-123 [PMID: 1 60 15

    DOI: 10.1016/j.jsbmb.2006.12.105]

    activity disorder. Genes Brain Behav 2011; 10: 33 -3 [PMID:

    21255266 DOI: 10.1111/j.1601-183X.2010.006 2.x]

    tion of aryl-and steroid sulfatases in brain. Brain Res 19 3; 59:

    3 9-358 [PMID: 61 DOI: 10.1016/0006-8993( 3)902 3- ]

    hormones. Front Neuroendocrinol 2011; 32: 183-200 [PMID:

    2139 62 DOI: 10.1016/j.yfrne.2011.03.001]

  • Similar Research Results (1)
  • Metrics
    0
    views in OpenAIRE
    0
    views in local repository
    262
    downloads in local repository

    The information is available from the following content providers:

    From Number Of Views Number Of Downloads
    Online Research @ Cardiff - IRUS-UK 0 262
Share - Bookmark