Foetal steroid sulphatase deficiency. A case report.
A normal healthy male infant was delivered by caesarian section because of low maternal urinary oestrogen excretion. Postnatal follow up showed that the child developed ichthyosis and that there was a family history of x-linked recessive ichthyosis. It is suggested that unexplained low urinary oestrogens should prompt enquiry about a family history of 'dry skin'.
D000328:Adult; D001192:Arylsulfatases / Q000378:metabolism; D002675:Child, Preschool; D004967:Estrogens / Q000652:urine; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000201:enzymology / Q000235:genetics; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010920:Placenta / Q000201:enzymology*; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000235:genetics; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000172:deficiency* / Q000378:metabolism; D014960:X Chromosome
D004967:Estrogens; D013429:Sulfatases; D001192:Arylsulfatases; D043266:Steryl-Sulfatase