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[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency]. | LitMetric

[Genetic factors in hypopituitarism. The role of transcription factors in pituitary hormone deficiency].

Orv Hetil

I. Gyermekgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.

Published: February 2018

AI Article Synopsis

  • Developmental disorders of the hypothalamic-pituitary system can lead to diverse clinical presentations and deficiencies in pituitary hormones due to defects in transcription factor genes.
  • * These defects during early organ development can impact both the pituitary gland and the central nervous system, while late-phase defects might cause pituitary hormone deficiencies without additional extra-pituitary issues.
  • * Identifying these transcription factor gene defects can help predict disease progression and aid in family screenings, with implications also noted for pituitary tumor classification by the World Health Organization.

Article 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 major role in pituitary development. Those affecting the early phase of organogenesis typically lead to complex conditions affecting the pituitary as well as structures in the central nervous system. Transcription factors involved in the late phase can result in combined but rarely isolated pituitary hormone deficiency without extra-pituitary manifestation. Identifying the defects in these pituitary transcription factor genes may provide a useful tool in predicting disease progression as well as screening family members. Several pituitary transcription factors can be detected in the adult gland as well which is strongly emphasized in the World Health Organization's most recent guideline for pituitary tumor classification. Our review summarizes the current essential knowledge relevant for clinical endocrinologists. Orv Hetil. 2018; 159(7): 278-284.

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Source
http://dx.doi.org/10.1556/650.2018.31029DOI Listing

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