Endocrine Abstracts

As with disorders of many other systems, the genetic aspect of pituitary diseases has exponentially changed over the last 2 decades. Some result in loss of function of the gland while others cause tumours and excess of hormones; some present as an isolated problem while others as part of a syndrome. Among the pituitary hormone deficiency syndromes, apart form the classical GH, TPIT, hypogonadotrophic hypogonadism and AVP deficiencies, newer diseases have also been described such as IGSF1-related disease or complex syndromes affecting hypothalamus/pituitary development-related transcription factors. Regarding pituitary tumours, in addition to isolated pituitary disease (AIP-related and X-linked acrogigantism) and the classical multiple endocrine neoplasia syndromes (Carney complex, MEN1 and McCune-Albright syndromes), pituitary tumours have now, although rarely, been described in traditionally non-endocrine tumour syndromes such as Lynch syndrome and most recently related to the breast cancer gene CHECK2. Most of these diseases are rare, so the clinician’s role is to recognise and record the signs and symptoms and to consider the possibility of genetic disease. With a high quality phenotype and with the help of the currently available genetic test panels, usually the correct diagnosis can be set up. However, genetic testing might also bring unexpected results or variants where pathogenicity is uncertain. Therefore, careful discussion between the clinician, the clinical geneticist and sometimes with specialist of a particular genetic disease is needed to decide on appropriate diagnosis and management.