Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
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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
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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
Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies
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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.
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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
Growth Hormone Is Beneficial for Induction of Spermatogenesis in Adult Patients With Congenital Combined Pituitary Hormone Deficiency
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DOI: 10.3389/fendo.2022.868047
Abstract: Background Gonadotropins are effective in inducing spermatogenesis in patients with congenital combined pituitary hormone deficiency (CCPHD). Data on recombinant human growth hormone(rhGH) adjuvant treatment to improve gonadotropin-induced spermatogenesis are limited. Design and Setting This retrospective… read more here.
Keywords: spermatogenesis; hormone; congenital combined; combined pituitary ... See more keywords
Identification of a Novel PROP1 Mutation in a Patient with Combined Pituitary Hormone Deficiency and Enlarged Pituitary
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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