A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency

2009 ◽  
Vol 32 (8) ◽  
pp. 653-658 ◽  
Author(s):  
Y. Carlomagno ◽  
M. Salerno ◽  
D. Vivenza ◽  
D. Capalbo ◽  
M. Godi ◽  
...  
Keyword(s):  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Splicing Mutation ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

Precocious or early puberty in patients with combined pituitary hormone deficiency due to POU1F1 gene mutation: case report and review of possible mechanisms

HORMONES ◽  
2018 ◽  
Vol 17 (4) ◽  
pp. 581-588
Author(s):  
Firdevs Baş ◽  
Zehra Yavaş Abalı ◽  
Güven Toksoy ◽  
Şükran Poyrazoğlu ◽  
Rüveyde Bundak ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Early Puberty ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

scholarly journals A novel heterozygous mutation in POU1F1 is associated with combined pituitary hormone deficiency

2017 ◽  
Vol 63 (3) ◽  
pp. 169-173
Author(s):  
Anna E. Gavrilova ◽  
Elena V. Nagaeva ◽  
Olga Y. Rebrova ◽  
Tatiana Y. Shiryaeva ◽  
Anatoly N. Tiulpakov ◽  
...  
Keyword(s):  
Brain Mri ◽  
Molecular Genetic ◽  
Autosomal Recessive Inheritance ◽  
Hormone Deficiency ◽  
Psychomotor Development ◽  
Heterozygous Mutation ◽  
Pituitary Hormone ◽  
Pou1f1 Gene ◽  
Pituitary Hormone Deficiency ◽  
Combined Pituitary Hormone Deficiency

Mutations in the POU1F1 gene (OMIM#613038) are a rare case of combined pituitary hormone deficiency (CPHD), which is characterized by deficiency of growth hormone, TSH, and prolactin. Brain mri reveals hypoplasia of the anterior lobe of the pituitary gland. The prevalence of this disease has not been fully studied, but it is reported that the incidence of mutations in the POU1F1 gene in patients with CPHD from nonrelated marriages is 3—7%, reaching 25—52% among familial cases. Both the autosomal dominant and the autosomal recessive inheritance patterns are possible. More than 30 mutations in POU1F1 have been described in patients with CPHD. One child in the family had a pronounced delay in physical and psychomotor development, characteristic signs of dysmorphogenesis, an extremely low IGF-1 level, low levels of ft4 and prolactin, and a normal cortisol level. Molecular genetic testing revealed a heterozygous mutation c.500a> g: p.q167r in the POU1F1 gene. This mutation has never been previously described. The patient showed a good response to the recombinant GH (rhGH) therapy.

scholarly journals The De Novo Q167K Mutation in the POU1F1 Gene Leads to Combined Pituitary Hormone Deficiency in an Italian Patient

2003 ◽  
Vol 54 (5) ◽  
pp. 635-640 ◽  
Author(s):  
Sabrina Malvagia ◽  
Giovanni Maria Poggi ◽  
Elisabetta Pasquini ◽  
Maria Alice Donati ◽  
Ivana Pela ◽  
...  
Keyword(s):  
De Novo ◽  
Hormone Deficiency ◽  
Pituitary Hormone ◽  
Pou1f1 Gene ◽  
Italian Patient ◽  
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