Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors

Moraes, Débora Cristina de; Vaisman, Mário; Conceição, Flávia Lúcia; Ortiga-Carvalho, Tânia M.

doi:10.1530/joe-12-0229

Cited by 63 publications

(34 citation statements)

References 59 publications

(73 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Transcription factors have long been known to play important roles in the HPG axis [21,99,100] . For example, mutations in PROP1, HESX1 and LHX3 all affect pituitary development whereas mutations in NR5A1 lead to defects in the ovaries, testes and adrenal glands.…”

Section: Epigenetic Regulation Through Transcription Factor Bindingmentioning

confidence: 99%

Epigenetics: A New Player in the Regulation of Mammalian Puberty

et al. 2014

View full text Add to dashboard Cite

All reproductively competent adults have gone through puberty. While key genes and signaling pathways that lead to the onset of sexual maturation are known, the molecular mechanisms that determine when an individual enters puberty are only beginning to be understood. Both genetic and environmental factors determine the timing of puberty. New advances in understanding how environmentally sensitive, yet highly heritable developmental processes are regulated have come from the field of epigenetics. Of note, studies investigating the epigenetic control of the onset of puberty suggest that epigenetic repression of key inhibitory loci may play a fundamental role in the initiation of puberty. Current technologies that not only read out the DNA sequence, but also determine how the DNA is modified in response to the environment, promise new insight into how puberty is regulated, including the identification and understanding of gene regulatory networks that control the biological pathways affecting pubertal timing. Here we review the findings to date and discuss how epigenetic investigation can further our understanding of this fundamental aspect of human development.

show abstract

Section: Epigenetic Regulation Through Transcription Factor Bindingmentioning

confidence: 99%

Epigenetics: A New Player in the Regulation of Mammalian Puberty

et al. 2014

View full text Add to dashboard Cite

show abstract

“…However, the generation of various lineages of the anterior pituitary requires the activity of several factors expressed later, responsible for the final differentiation of somatotropes, lactotropes, thyrotropes, gonadotropes, melanotropes and corticotropes. As for the particular case of thyrotropic differentiation, 3 transcription factors PROP1, POU1F1 and GATA2 are required [106]. Despite their proven involvement in pituitary organogenesis and thyrotrope differentiation in rodent models, human phenotypes for PITX1 and GATA2 defects are to date elusive (table 1).…”

Section: Tsh Deficiency In the Context Of Combined Pituitary Hormone mentioning

confidence: 99%

Central Hypothyroidism in Children

García

Fernández

Moreno³

2014

Paediatric Thyroidology

View full text Add to dashboard Cite

Central congenital hypothyroidism (CCH) is an underdiagnosed disorder poorly described in childhood and adolescence. Congenital defects in thyroid-stimulating hormone (TSH) synthesis, secretion or bioactivity may lead to a state of 'regulatory' hypothyroidism expressed through aberrantly low or normal TSH levels and low thyroxine (T4), a hormonal pattern undetectable by TSH-based neonatal screening programs for congenital hypothyroidism (CH) implemented in most countries worldwide. CCH is more prevalent than previously thought, reaching 1 in 16,000 neonates in countries consistently identifying CCH through T4-based CH screening strategies. Neonatal detection and early treatment of CCH would prevent the risk of developing mental retardation secondary to late diagnosis of infantile hypothyroidism. CCH is frequently associated with other pituitary defects causing life-threatening situations (like e.g. adrenocorticotropic hormone deficiency) which could benefit from the early detection of CCH, avoiding considerable morbidity and mortality. CCH is not easy to identify clinically, and therefore few children are investigated for the disorder. The current knowledge on the genetic bases of CCH is also scarce. At the hypothalamic level no gene defects causing CCH have yet been identified in humans, but pituitary (thyrotrope)-selective genes encoding the TSH-releasing hormone (TRH) receptor (TRHR), the TSH β-subunit (TSHB) and, recently, the immunoglobulin superfamily factor 1 (IGSF1) are genes involved in isolated central hypothyroidism. Moreover, central hypothyroidism is a complex condition where many regulatory signals are implicated and converge to finely modulate the activity of the hypothalamic-pituitary-thyroid axis. This review focuses on novel pathogenic mechanisms and their implications to understand human CCH and improve the identification and the therapeutic handling of this elusive disease in the pediatric age.

show abstract

“…The pituitary gland is a midline structure located within the sella turcica recess of the sphenoid bone at the base of the brain. The development of the anterior pituitary gland is characterized by a highly complex and organized process involving temporary and spatially arranged signaling molecules and tissue-specific transcription factors, such as HESX1, LHX3, LHX4, PROP1, PIT1, GATA2 and TBX19 (18)(19)(20). The mature anterior pituitary gland consists of five distinct cell types, secreting a total of six hormones: LH and FSH from the gonadotrophs, GH from the somatotrophs, TSH from the thyrotrophs, ACTH from the corticotrophs and PRL from the lactotrophs.…”

Section: Discussionmentioning

confidence: 99%

Aniridia with a Heterozygous <i>PAX6</i> Mutation in which the Pituitary Function was Partially Impaired

et al. 2014

View full text Add to dashboard Cite

We herein report the case of a woman with aniridia and with a heterozygous PAX6 mutation. Pax6 is a transcription factor involved in the development of several organs, including the eye, pancreas and pituitary. The patient had been diagnosed with aniridia in childhood and was found to have impaired glucose tolerance with a heterozygous PAX6 mutation 12 years prior to the current admission. Hormone stimulating tests revealed a slightly impaired pituitary function, including subtle hypogonadotropic hypogonadism and borderline growth hormone (GH) deficiency. The present case is the first report of a slightly impaired pituitary function in an aniridia patient with a heterozygous PAX6 mutation.

show abstract

Pituitary development: a complex, temporal regulated process dependent on specific transcriptional factors

Cited by 63 publications

References 59 publications

Epigenetics: A New Player in the Regulation of Mammalian Puberty

Epigenetics: A New Player in the Regulation of Mammalian Puberty

Central Hypothyroidism in Children

Aniridia with a Heterozygous <i>PAX6</i> Mutation in which the Pituitary Function was Partially Impaired

Contact Info

Product

Resources

About