Linked Life Data

18996963

Source:http://linkedlifedata.com/resource/pubmed/id/18996963

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2009-1-26
pubmed:abstractText
17-Hydroxylase/17,20-lyase deficiency (17OHD) results from mutations in the CYP17A1 gene, leading to failure to synthesize cortisol, adrenal androgens, and gonadal steroids. Adrenarche is a consequence of the increased production of adrenal androgens. Here, we report a case carrying novel R239Q mutation causing complete functional loss of CYP17A1, and thus absence of adrenal and gonadal sex hormone production. The patient has had unexpected pubic hair development and insufficient breast development with estrogen replacement therapy. Possible mechanisms leading to pubic hair development and breast underdevelopment are discussed.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1479-683X
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
160
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
325-30
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Puberty in a case with novel 17-hydroxylase mutation and the putative role of estrogen in development of pubic hair.
pubmed:affiliation
Division of Pediatric Endocrinology, Department of Pediatrics, Marmara University, Altunizade, Uskudar, 34660 Istanbul, Turkey. serap.turan@marmara.edu.tr
pubmed:publicationType
Journal Article, Case Reports, Research Support, N.I.H., Extramural