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low uE3From: Allen Gardner (allen.gardner@utoronto.ca)Tue May 5 07:57:44 1998
Greetings, Please respond to these thoughts re low uE3 on MSS. There is a differential diagnosis: +18 and +21 should be flagged by the MSS report X-linked ichthyosis (steroid sulfatase (STS) defeciency) Smith-Lemli-Opitz syndrome Multiple sulfatase defeciency Congenital adrenal hypoplasia There may be others, so please fill in the gaps. An amnio is necessary to sort this out. Chromosome studies with FISH using the STS, KAL and DXS1140 probes Iduronate sulfatase on supernatant for multiple sulfatase deficiency 7-dehydrocholesterol on supernatant for Smith-Lemli-Opitz Order a detailed ultrasound for polydactyly, sexing and size of adrenals. This may sound like overkill but we really have only one shot at this. The question now is, what level of uE3 is low enough to warrent this. We have had 3 patients in the past year and a half. All were flagged because the uE3 was <0.05nmol/L. The MoMs were 0.03, <0.10 and <0.07. All turned out to have a deletion of the STS gene with the contiguous region intact. Two of the 3 had a family history of males with "skin problems" (scaley, dry, fish skin, etc.) consistent with X-linked recessive inheritance. All mothers were carriers. All continued the pregnancy. I'd appreciate comments about your experiences. Allen. H. Allen Gardner MD, Director of Genetic Services Oshawa General Hospital, 24 Alma Street, Oshawa, Ontario, L1G 2B9, Canada Associate Professor, Department of Laboratory Medicine and Pathobiology University of Toronto 905 433 2733 phone 905 721 4757 fax
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