Linked Life Data

11515731

Source:http://linkedlifedata.com/resource/pubmed/id/11515731

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
7
pubmed:dateCreated
2001-8-22
pubmed:abstractText
We describe a girl with triple X syndrome and paternal isodisomy of chromosome 6 (UPD6), who developed neonatal diabetes mellitus (NDM) and precocious puberty. At birth she presented growth retardation and congenital anomalies (ventricular septal defect, macroglossia, umbilical hernia). Diabetes mellitus (DM) was diagnosed at 31 days of life and treated with insulin for 13 months. DM recurred at 4 years of age and since that time it required insulin, in spite of preserved beta-cell function. Tall stature was present from early childhood. At 7 years of age the girl presented central precocious puberty, height velocity further increased, but her near-final height was normal. This patient is unique in that precocious puberty has never been described in triple X females. Moreover it is a further example of paternal UPD6 causing NDM with a predisposition to type 2 DM in later life.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0334-018X
pubmed:author
pubmed:issnType
Print
pubmed:volume
14
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
897-900
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:articleTitle
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6.
pubmed:affiliation
Department of Pediatrics, DPMSC, University of Udine, Italy. giuliana.valerio@libero.it
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't