A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

Nobuhiko Sunohara, Norio Sakuragawa, Eijiro Satoyoshi, Ayako Tanae, Larry J. Shapiro

    Research output: Contribution to journalArticle

    51 Scopus citations

    Abstract

    We describe a family consisting of 3 affected men with congenital ichthyosis, anosmia, hypogonadism, nystagmus with decreased visual acuity, strabismus, hypopigmentation of the iris, and mirror movements of the hands and feet. Two of them had limitation of ocular movement and unilateral renal agenesis or hypoplasia. The condition appears to be inherited as an X‐linked recessive trait. Clinical, pathological, and biochemical evaluations were compatible with a diagnosis of X‐linked ichthyosis. Steroid sulfatase and arylsulfatase C activities in leukocytes and fibroblasts were markedly diminished in the affected patients. Their hypogonadism was due to decreased luteninizing hormone–releasing hormone secretion (hypogonadotropic). Hyposecretion of antidiuretic hormone was also recognized. Chromosome analysis of leukocytes and skin fibroblasts revealed a normal 46,XY male karyotype in all of the patients.

    Original languageEnglish
    Pages (from-to)174-181
    Number of pages8
    JournalAnnals of neurology
    Volume19
    Issue number2
    DOIs
    StatePublished - Feb 1986

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