2017
DOI: 10.1007/s11102-017-0850-6
|View full text |Cite
|
Sign up to set email alerts
|

Genetic screening of regulatory regions of pituitary transcription factors in patients with idiopathic pituitary hormone deficiencies

Abstract: PurposeMutation frequencies of PROP1, POU1F1 and HESX1 in patients with combined pituitary hormone deficiencies (CPHD) vary substantially between populations. They are low in sporadic CPHD patients in Western Europe. However, most clinicians still routinely send DNA of their CPHD patients for genetic screening of these pituitary transcription factors. Before we can recommend against screening of PROP1, POU1F1 and HESX1 as part of routine work-up for Western-European sporadic CPHD patients, it is crucial to rul… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
3
1
1

Citation Types

0
13
0

Year Published

2019
2019
2023
2023

Publication Types

Select...
7

Relationship

1
6

Authors

Journals

citations
Cited by 13 publications
(13 citation statements)
references
References 33 publications
0
13
0
Order By: Relevance
“…PROP1 mutation prevalence is higher in familial patients compared to sporadic cases in all cohorts ( 3 , 6 , 13 , 22 , 24 , 26 , 29 , 30 , 31 , 32 ). Parental consanguinity is known to increase the risk for autosomal recessive conditions.…”
Section: Discussionmentioning
confidence: 88%
See 3 more Smart Citations
“…PROP1 mutation prevalence is higher in familial patients compared to sporadic cases in all cohorts ( 3 , 6 , 13 , 22 , 24 , 26 , 29 , 30 , 31 , 32 ). Parental consanguinity is known to increase the risk for autosomal recessive conditions.…”
Section: Discussionmentioning
confidence: 88%
“…However, the frequency was reported to vary widely between 0% and 70.1% from different populations ( 10 , 18 , 19 , 20 , 21 ). PROP1 mutation frequencies among CPHD patients are highest in Eastern European populations especially Lithuanian, Polish and Hungarian, and also high in Portuguese, Russian and Brazilian cohorts ( 3 , 10 , 12 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ). In contrast, PROP1 mutation rates are usually low in Western and Southern European countries, Australia and in cases with Asian origin, especially in sporadic CPHD patients ( 3 , 6 , 18 , 19 , 20 , 21 , 29 ).…”
Section: Discussionmentioning
confidence: 98%
See 2 more Smart Citations
“…Mutations in the GH1 and GHRH genes shed light on the phenotype and pathogenesis of isolated GHD, whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 are involved in combined pituitary hormone deficiencies. Depending upon the expression patterns of these molecules, the phenotype may consist of isolated pituitary dysfunction or more complex disorders such as septo-optic dysplasia and holoprosencephaly [49][50][51][52]. A link between genetic disorders and autoimmunity has been described in Prader-Willi syndrome (PWS), a genetic condition caused by loss of the paternal copy of a region of imprinted genes on chromosome 15, in which developmental delay is associated with severe muscular hypoplasia and hyperphagia leading to severe obesity.…”
Section: Ghd In the Context Of Genetic Disordersmentioning
confidence: 99%