Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency

10.1038/76041 ◽  
2000 ◽  
Vol 25 (2) ◽  
pp. 182-186 ◽  
Author(s):  
Irène Netchine ◽  
Marie-Laure Sobrier ◽  
Heiko Krude ◽  
Dirk Schnabel ◽  
Mohamed Maghnie ◽  
...  
Keyword(s):  
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.

scholarly journals Combined pituitary hormone deficiency due to gross deletions in the POU1F1 (PIT-1) and PROP1 genes

2017 ◽  
Vol 62 (8) ◽  
pp. 755-762 ◽  
Author(s):  
Eleonore Bertko ◽  
Jürgen Klammt ◽  
Petra Dusatkova ◽  
Mithat Bahceci ◽  
Nazli Gonc ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

Mutation Analyses of PROP1 in 24 Patients with Combined Pituitary Hormone Deficiency: Identification of a Novel Substitution

2011 ◽  
pp. P1-266-P1-266
Author(s):  
Debora Cristina Moraes ◽  
Karina Schiavoni Scandelai Cardoso dos Reis ◽  
Gisele Dazzi Lorenzoni ◽  
Flavia Lucia Conceicao ◽  
Mario Vaismann ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency ◽  
Mutation Analyses

scholarly journals Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

2019 ◽  
Vol 63 (2) ◽  
pp. 167-174 ◽  
Author(s):  
Fernanda A. Correa ◽  
Marilena Nakaguma ◽  
João L. O. Madeira ◽  
Mirian Y. Nishi ◽  
Milena G. Abrão ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency
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