Identification of SLC20A1 and SLC15A4 among other genes as potential risk factors for combined pituitary hormone deficiency
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.165
Abstract: PurposeCombined pituitary hormone deficiency (CPHD) is characterized by a malformed or underdeveloped pituitary gland resulting in an impaired pituitary hormone secretion. Several transcription factors have been described in its etiology, but defects in known genes… read more here.
Keywords: slc20a1 slc15a4; pituitary hormone; hormone deficiency;
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Endocrinology"
DOI: 10.1111/cen.13430
Abstract: Mutations in PROP1, HESX1 and LHX3 are associated with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP). read more here.
Keywords: orthotopic posterior; posterior pituitary; pituitary hormone; pituitary lobe ... See more keywords
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization
Sign Up to like & getrecommendations! Published in 2019 at "Clinical Endocrinology"
DOI: 10.1111/cen.13914
Abstract: The Gli‐family of zinc‐finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway that plays a key role in early pituitary and ventral forebrain development. Heterozygous GLI2 loss of function mutations in humans have been… read more here.
Keywords: combined pituitary; hormone deficiency; pituitary hormone; gli2 ... See more keywords
Joubert syndrome with multiple pituitary hormone deficiency
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DOI: 10.1136/bcr-2018-229016
Abstract: Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain–hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature.… read more here.
Keywords: hormone deficiency; joubert syndrome; pituitary hormone; multiple pituitary ... See more keywords
Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies
Sign Up to like & getrecommendations! Published in 2017 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2017-00005
Abstract: Context: Women with hypopituitarism have lower pregnancy rates after ovulation induction. Associated pituitary hormone deficiencies might play a role in this poorer outcome. Objective: We evaluated fertility treatment and pregnancy outcomes in five women with… read more here.
Keywords: replacement; hormone; adequate hormonal; pituitary hormone ... See more keywords
A novel heterozygous intronic mutation in POU1F1 is associated with combined pituitary hormone deficiency.
Sign Up to like & getrecommendations! Published in 2017 at "Endocrine journal"
DOI: 10.1507/endocrj.ej16-0361
Abstract: POU class 1 homeobox 1 (POU1F1) regulates pituitary cell-specific gene expression of somatotropes, lactotropes, and thyrotropes. In humans, two POU1F1 isoforms (long and short isoform), which are generated by the alternative use of the splice… read more here.
Keywords: isoform; pituitary hormone; pou1f1; combined pituitary ... See more keywords
Normal or elevated prolactin is a good indicator to show pituitary stalk interruption syndrome in patients with multiple pituitary hormone deficiency
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2022-0366
Abstract: Abstract Objectives To determine the importance of serum prolactin (PRL) in the detection of pituitary stalk interruption syndrome (PSIS) in children with multiple pituitary hormone deficiency (MPHD). We hypothesized that PRL elevation might be a… read more here.
Keywords: hormone; pituitary hormone; pituitary stalk; hormone deficiency ... See more keywords
[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency].
Sign Up to like & getrecommendations! Published in 2018 at "Orvosi hetilap"
DOI: 10.1556/650.2018.31029
Abstract: Developmental disorders affecting the hypothalamic-pituitary system can result in pituitary hormone deficiency showing a diverse clinical presentation. A significant majority of these disorders are closely linked to defects in transcription factor genes which play a… read more here.
Keywords: hormone deficiency; transcription; pituitary hormone; transcription factors ... See more keywords
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
Sign Up to like & getrecommendations! Published in 2019 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms20081875
Abstract: Growth hormone deficiency (GHD) can be present from the neonatal period to adulthood and can be the result of congenital or acquired insults. In addition, GHD can be classified into two types: isolated growth hormone… read more here.
Keywords: hormone; enlarged pituitary; pituitary hormone; combined pituitary ... See more keywords