AI Article Synopsis
- Genetic testing is increasingly integrated into endocrinology, helping identify genetic causes of various endocrine diseases, including pituitary neuroendocrine tumors.
- Germline genetic alterations related to pituitary adenomas can be linked to isolated disorders like X-linked acrogigantism or syndromic conditions like multiple endocrine neoplasia type 1.
- Understanding these genetic factors can influence treatment decisions and enable early detection in family members, leading to better outcomes through cascade screening.
Article Abstract
Genetic testing is becoming part of mainstream endocrinology. An increasing number of rare and not-so-rare endocrine diseases have an identifiable genetic cause, either at the germline or at the somatic level. Here we summerise germline genetic alterations in patients with pituitary neuroendocrine tumors (pituitary adenomas). These may be disorders with isolated pituitary tumors, such as X-linked acrogigantism, or AIP-related pituitary tumors, or as part of syndromic diseases, such as multiple endocrine neoplasia type 1 or Carney complex. In some cases, this could be relevant for treatment choices and follow-up, as well as for family members, as cascade screening leads to early identification of affected relatives and improved clinical outcomes.
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| http://dx.doi.org/10.1016/j.arcmed.2023.102920 | DOI Listing |
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