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A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C
Author(s) -
Sunohara Nobuhiko,
Sakuragawa Norio,
Satoyoshi Eijiro,
Tanae Ayako,
Shapiro Larry J.
Publication year - 1986
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.410190211
Subject(s) - steroid sulfatase , ichthyosis , anosmia , endocrinology , medicine , kallmann syndrome , hypogonadotropic hypogonadism , hypoplasia , dermatology , hormone , steroid , disease , covid-19 , infectious disease (medical specialty)
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.