Abstract
Empty sella (ES) is a condition characterized by arachnoid herniation into the sellar fossa which leads to flattening of the pituitary gland against the sellar floor. Besides endocrine disturbances, patients with ESS may also have neuropsychiatric symptoms such as headache, dizziness, seizures, schizophrenia. Typically, ES is not inherited. However, due to the advent of new methods of brain imaging and molecular genetics, the perspective on the genetics of ESS has been changing. The aim of this study is to analyze genome-wide association studies of candidate genes related to the development of ESS in humans. Based on the available studies which have been analyzed, all candidate genes of ESS were divided into 4 groups: group 1 - candidate genes related to ESS, group 2 - candidate genes related to pathways of ESS, group 3 - candidate genes related to cellular components of ESS, group 4 - candidate genes related to biological processes of ESS.
Highlights
Empty sella (ES) is a condition characterized by arachnoid herniation into the sellar fossa which leads to flattening of the pituitary gland against the sellar floor and stretching of the pituitary stalk [1,2,3]
Based on the available studies which we have analyzed, it is possible to divide all candidate genes of empty sella syndrome (ESS) into 4 groups [26]: group 1 – candidate genes related to ESS (Table 1), group 2 – candidate genes related to pathways of ESS (Table 2), group 3 – candidate genes related to cellular components of ESS (Table 3), group 4 – candidate genes related to biological processes of ESS (Table 4)
The most significant of all candidate genes related to the development of ESS are the PRL gene coding for prolactin (odd ratio (OD) = 24.29); the GH1 gene coding for growth hormone 1 (OR = 14.39); the POMC gene coding for proopiomelanocortin (OR = 14.25); the TRH gene coding for thyrotropin releasing hormone (OR = 13.62); the IGF1 gene coding for insulin like growth factor 1 (OR = 13.49)
Summary
Empty sella (ES) is a condition characterized by arachnoid herniation into the sellar fossa which leads to flattening of the pituitary gland against the sellar floor and stretching of the pituitary stalk [1,2,3]. Clinical presentation of empty sella syndrome (ESS) is usually correlated with endocrine disturbances, especially with decreased pituitary function [19]. If less than 50% of the sella turcica is filled with cerebrospinal fluid (CSF) and pituitary gland thickness is more or equal to 3 mm in diameter, it is considered to be a partial ES. If more than 50% of the sella is filled with CSF and pituitary gland thickness is less than 2 mm, it is called total (complete) ES [1,2]. Secondary empty sella (SES) occurs as a consequence of another disorder or earlier injury, such as pituitary adenomas, previous surgery, increased intracranial pressure because of cerebral tumor or hydrocephalus, cerebral radiotherapy, Sheehan’s syndrome, craniocerebral trauma [2]. Congenital anomalies are Personalized Psychiatry and Neurology 2021, 1 (1)
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