Linked Life Data

7584707

Source:http://linkedlifedata.com/resource/pubmed/id/7584707

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1995-12-12
pubmed:abstractText
We report on six young female patients from two families who were found to have a very rare form of ovarian failure. Hypogonadism is inherited with an ocular abnormality consisting of a congenital dysplasia of the eyelids. In one family inheritance is autosomal dominant and in the other it is a de novo mutation. The patients have no other dysmorphic features and are of normal intelligence. Plasma levels of follicle-stimulating and luteinizing hormones are significantly elevated. Examination of the internal genitalia by laparoscopy was performed in four cases with ovarian biopsy in one case; the results are compatible with gonadal dysgenesis. Cytogenetic studies indicate the absence of chromosomal defects.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
8
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
127-33
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Familial blepharophimosis: an uncommon marker of ovarian dysgenesis.
pubmed:affiliation
Service d'Endocrinologie Pédiatrique Hôpital Debrousse, Lyon, France.
pubmed:publicationType
Journal Article, Case Reports