Clinical Characteristics and Molecular Analysis of PIT1, PROP1,LHX3, and HESX1 in Combined Pituitary Hormone Deficiency Patients with Abnormal Pituitary MR Imaging

2003 ◽  
Vol 60 (6) ◽  
pp. 277-283 ◽  
Author(s):  
Sung-Su Kim ◽  
Youngho Kim ◽  
Young-Lim Shin ◽  
Gu-Hwan Kim ◽  
Tae-Ue Kim ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Molecular Analysis ◽  
Clinical Characteristics ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

scholarly journals Combined Pituitary Hormone Deficiency and PROP-1 Mutation in Two Siblings: A Distinct MR Imaging Pattern of Pituitary Enlargement

2007 ◽  
Vol 28 (7) ◽  
pp. 1369-1370 ◽  
Author(s):  
L.L.F. do Amaral ◽  
R.M. Ferreira ◽  
N.P.F.D. Ferreira ◽  
R.A. Mendonca ◽  
V.H.R. Marussi ◽  
...  
Keyword(s):  
Mr Imaging ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Pituitary Enlargement

Molecular analysis of novelPROP1mutations associated with combined pituitary hormone deficiency (CPHD)

2009 ◽  
Vol 70 (1) ◽  
pp. 96-103 ◽  
Author(s):  
D. Kelberman ◽  
J. P. G. Turton ◽  
K. S. Woods ◽  
A. Mehta ◽  
M. Al-Khawari ◽  
...  
Keyword(s):  
Molecular Analysis ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

Metabolic status of patients with combined pituitary hormone deficiency due to PROP1 mutation

2020 ◽  
Author(s):  
Damian Rogoziński ◽  
Aleksandra Gilis-Januszewska ◽  
Łukasz Kluczyński ◽  
Magdalena Godlewska ◽  
Alicja Hubalewska-Dydejczyk
Keyword(s):  
Metabolic Status ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

scholarly journals MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

2016 ◽  
Vol 174 (6) ◽  
pp. R239-R247 ◽  
Author(s):  
Frederic Castinetti ◽  
Rachel Reynaud ◽  
Alexandru Saveanu ◽  
Nicolas Jullien ◽  
Marie Helene Quentien ◽  
...  
Keyword(s):  
Transcription Factors ◽  
G Protein Coupled Receptors ◽  
Hormone Deficiency ◽  
Immunoglobulin Superfamily ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Signalling Molecules ◽  
Genes Encoding ◽  
G Protein Coupled

Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described. Finally, actors known to be involved in a very specific phenotype (hypogonadotroph hypogonadism for instance) have been identified in a wider range of phenotypes. These data thus suggest that new mechanisms could explain the low rate of aetiological identification in this heterogeneous group of diseases. Taking into account the fact that several reviews have been published in recent years on classical aetiologies of CPHD such as mutations ofPOU1F1orPROP1, we focused the present overview on the data published in the last 5 years, to provide the reader with an updated review on this rapidly evolving field of knowledge.

Sign in / Sign up

Export Citation Format

Share Document