Conclusion: Simplified sampling schemes, particularly a day profile, can be used for the estimation of GH secretion in patients with active acromegaly and under medical treatment. However, in... Show moreConclusion: Simplified sampling schemes, particularly a day profile, can be used for the estimation of GH secretion in patients with active acromegaly and under medical treatment. However, in healthy controls and patients after successful surgery, prolonged and frequent sampling schemes, at least at 2-hour intervals, reliably reflect 24-hour secretion. Show less
Conclusions The LBNQ-Pituitary can be used to assess the degree to which patients are bothered by the consequences of the pituitary disease, as well as their needs for support. It could also... Show moreConclusions The LBNQ-Pituitary can be used to assess the degree to which patients are bothered by the consequences of the pituitary disease, as well as their needs for support. It could also facilitate an efficient assessment of patients' needs for support in clinical practice. We postulate that paying attention to needs for support will lead to optimal patient care (e.g., improvement in psychosocial care), and positively affect QoL. Show less
ConclusionsAdult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing. This finding was not related to the age at start of replacement therapy, or... Show moreConclusionsAdult male patients with IGSF1 deficiency exhibit mild deficits in attentional control on formal testing. This finding was not related to the age at start of replacement therapy, or current levothyroxine treatment. Show less
Conclusions: In this study, discontinuation of rhGh replacement resulted in metabolic changes only in patients < 60 years after 3 years. Further research warrants to determine the optimal... Show moreConclusions: In this study, discontinuation of rhGh replacement resulted in metabolic changes only in patients < 60 years after 3 years. Further research warrants to determine the optimal strategies for (dis) continuation of rhGh replacement in adult patients with GHD. Show less
Conclusions: Low beta-arrestin expression and high SSTR2/beta-arrestin ratio correlate with the responsiveness to long-term treatment with SSAs in patients with acromegaly.
Joustra, S.D.; Heinen, C.A.; Schoenmakers, N.; Bonomi, M.; Ballieux, B.E.P.B.; Turgeon, M.O.; ... ; IGSF Clinical Care Grp 2016
Conclusion: Lifelong injections of long-acting somatostatin analogues have significant burden on the functioning, well-being and daily lives of patients with acromegaly.
Acromegaly is a chronic, progressive disease caused by a growth hormone (GH)-producing pituitary adenoma, resulting in elevated GH and insulin-like growth factor 1 concentrations. Following... Show moreAcromegaly is a chronic, progressive disease caused by a growth hormone (GH)-producing pituitary adenoma, resulting in elevated GH and insulin-like growth factor 1 concentrations. Following appropriate therapy (surgery, radiotherapy and/or medical treatment), many systemic GH-induced comorbid conditions improve considerably. Unfortunately, despite biochemical control, acromegaly patients suffer from a high prevalence of late manifestations of transient GH excess, significantly impairing their quality of life. In this overview article, we summarize the pathophysiology, diagnosis, clinical picture, disease course and management of skeletal complications of acromegaly, focusing on vertebral fractures and arthropathy. (C) 2015 S. Karger AG, Basel Show less
Background: Loss-of-function mutations in immunoglobulin superfamily member 1 (IGSF1) cause an X-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise,... Show moreBackground: Loss-of-function mutations in immunoglobulin superfamily member 1 (IGSF1) cause an X-linked syndrome of central hypothyroidism, macroorchidism, delayed pubertal testosterone rise, variable prolactin deficiency and variable partial GH deficiency in childhood. The clinical features and gene expression pattern suggest a pivotal role for IGSF1 in the pituitary, but detailed knowledge on pituitary hormone secretion in this syndrome is lacking. We therefore aimed to study the 24-hour pituitary hormone secretion in male patients with IGSF1 deficiency. Methods: We collected blood samples every 10 min for 24 h in eight adult male IGSF1-deficient patients and measured circulating TSH, prolactin and gonadotropins. Deconvolution, modified cosinor and approximate entropy analyses were applied to quantify secretion rates, diurnal rhythmicity and regularity of hormone release. Results were compared to healthy controls matched for age and body mass index. Results: Compared to healthy controls, IGSF1-deficient patients showed decreased pulsatile secretion of TSH with decreased disorderliness and reduced diurnal variation. Basal and pulsatile secretion of FSH was increased by over 200%, while LH secretion did not differ from healthy controls. We observed a bimodal distribution of prolactin secretion, i.e. severe deficiency in three and increased basal and total secretion in the other five patients. Conclusion: The altered TSH secretion pattern is consistent with the previously hypothesized defect in thyrotropin-releasing hormone signaling in IGSF1 deficiency. However, the phenotype is more extensive and includes increased FSH secretion without altered LH secretion as well as either undetectable or increased prolactin secretion. (C) 2015 S. Karger AG, Basel Show less
