Novel STAR gene variant in a patient with classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency

AbstractWe report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an already reported variant of c.634C>T, namely, p.Gln212*. The association with combined pituitary hormone deficiency might be just a coincidence.

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Late onset adrenocorticotrope deficiency in combined pituitary hormone deficiency caused by a mutation of the PROP1 gene

Endocrine Abstracts ◽

10.1530/endoabs.56.p721 ◽

2018 ◽

Author(s):

Silvia Paredes ◽

Olinda Marques ◽

Marta Alves

Keyword(s):

Late Onset ◽

Hormone Deficiency ◽

Pituitary Hormone ◽

Pituitary Hormone Deficiency ◽

Combined Pituitary Hormone Deficiency ◽

Prop1 Gene

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

Endocrine Abstracts ◽

10.1530/endoabs.70.aep735 ◽

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

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

Journal of Endocrinological Investigation ◽

10.1007/bf03345736 ◽

2009 ◽

Vol 32 (8) ◽

pp. 653-658 ◽

Cited By ~ 8

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

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

Acta Endocrinologica ◽

10.1530/eje-15-1095 ◽

2016 ◽

Vol 174 (6) ◽

pp. R239-R247 ◽

Cited By ~ 26

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.

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