Pituitary Disorders and their Extra-Pituitary Implications

Sjoerd Joustra – Leiden University Medical Center (2016)

Samenvatting

The studies presented in this thesis aimed to explore pituitary functioning and extra-pituitary implications of two pituitary disorders in humans. Part A focuses on the long-term consequences of the diagnosis and treatment of nonfunctioning pituitary macroadenoma (NFMA) on hypothalamic regulation of circadian rhythmicity. These patients are at theoretical risk for damage of especially the hypothalamic suprachiasmatic nucleus (SCN), harboring the seat of the body’s central clock, and its projections. We aimed to explore symptoms of SCN dysfunctioning and their implications for patients, in order to formulate strategies to prevent or manage these long-term disabilities. Part B focuses on the clinical characteristics and pathophysiology of the X-linked IGSF1 deficiency syndrome, in order to aid physicians in providing the necessary diagnostic procedures and long-term care for these patients, and to learn about IGSF1’s role in endocrine physiology.