Linked Life Data

6308936

Source:http://linkedlifedata.com/resource/pubmed/id/6308936

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1983-9-20
pubmed:abstractText
A 22 year old XX female patient with primary amenorrhoea and sexual infantilism was studied. Persistently elevated serum LH and FSH concentrations and exaggerated LRH pituitary responsiveness indicated deficient ovarian hormonal production. Serum levels of C21 and C19 steroids measured by specific radioimmunoassays before and after appropriate stimulations demonstrated an impairment of adrenal and ovarian steroid biosynthesis. Baseline levels of androstenedione (delta 4-A), testosterone (T), and oestradiol-17 beta (E2) were persistently below the normal range for healthy women at early follicular phase, whereas progesterone (P) and 17 alpha-OH-progesterone (17-OH-P) serum levels were significantly higher than those observed for normal women. Adrenal and gonadal stimulation with ATCH and hCG, respectively, resulted in a considerable rise in serum P and 17-OH-P without any significant change in circulating levels of delta 4-A, T, and E2. These findings were consistent with the diagnosis of 17,20 steroid desmolase deficiency at both adrenal and ovarian levels. This is the first report of a 17,20 desmolase deficiency in an XX individual, and is in line with previous suggestions that familial occurrence of the disorder would fit an autosomal recessive pattern of inheritance.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jul
pubmed:issn
0001-5598
pubmed:author
pubmed:issnType
Print
pubmed:volume
103
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
400-5
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1983
pubmed:articleTitle
Hypergonadotrophic hypogonadism in an XX female subject due to 17,20 steroid desmolase deficiency.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't