Linked Life Data

14691719

Source:http://linkedlifedata.com/resource/pubmed/id/14691719

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2004-2-17
pubmed:abstractText
Alopecia congenita, laryngomalacia, and XY gonadal dysgenesis has been reported recently as a new syndrome in two unrelated Arab families from Jordan. We report a 4-year-old girl of first cousin Arab parents who had alopecia, microcephaly, cutis marmorata, short stature and borderline cognitive development. Karyotype analysis revealed a male constitution (46,XY) with no deletion of STSor SRY. She showed entirely normal female external genitalia and absence of female internal genitalia. Histological examination of the very small testicles found on laparascopy showed developed spermatic cords and paratesticular tissue with no testicular parenchyma, no Sertoli or Leydig cell development, and no seminiferous tubular development. Hormonal profile was that of a normal female child. Southern blotting and PCR assays showed an intact Y chromosome. Limited sequencing of the SRYgene revealed no mutations. CONCLUSION: this patient, together with the recently reported consanguineous families, represent a previously unrecognised autosomal recessive trait with pleiotropic effects including XY gonadal dysgenesis.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0340-6199
pubmed:author
pubmed:issnType
Print
pubmed:volume
163
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
170-2
pubmed:dateRevised
2005-4-19
pubmed:meshHeading
pubmed:year
2004
pubmed:articleTitle
Alopecia congenita universalis, microcephaly, cutis marmorata, short stature and XY gonadal dysgenesis: variable expression of El-Shanti syndrome.
pubmed:affiliation
Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada. ateebi@sickkids.ca
pubmed:publicationType
Journal Article, Case Reports