Endocrine Abstracts

Patient- and family center edendocrine cancer care encourages active collaboration between the departments of endocrinology, oncology, surgery, pathology, chemistry, radiology, nuclear medicine and clinical genetics. The implementation of high-throughput DNA/RNA sequencing platforms has allowed novel molecular information to be used to optimize primary endocrine cancer care including tumor classification, prognostic forecasting, stratification for targeted treatment in recurre...

Infertility is a serious problem in female as well in male CAH patients. The most important cause of male infertility in CAH patients is the presence of testicular adrenal rest tumors (TART). The reported prevalence in adult CAH patients is up to 96%. TART have no malignant features but because of their typical localization near the mediastinum testis, longstanding compression of the seminiferous tubules may lead to obstructive azoospermia and irreversible damage of testicular...

Introduction: Obesity and gonadal dysfunction are major side effects of treatment in adult childhood cancer survivors. In the general population, obesity has a negative influence on female fertility. The aim of the study was to evaluate whether obesity and serum insulin are associated with decreased ovarian reserve markers in childhood cancer survivors.Methods: We performed a retrospective single-center cohort study in 191 adult female survivors of child...

Context: Germline mutations of the gene encoding succinate dehydrogenase subunit B (SDHB) predispose to head and neck paraganglioma (HNPGL), sympathetic PGL, phaeochromocytoma and renal cell carcinoma for which regular surveillance is required. SDHB-associated tumors harbor germline and somatic mutations, consistent with Knudson’s two-hit hypothesis stating that the combination of an inactivating germline mutation as a first hit and somatic loss of funct...

Due to the pulsatile characteristic of pituitary hormone secretion, its involvement in the acute response to stress and feed-back mechanisms with hormones of peripheral glands, baseline circulating levels of many pituitary hormones may significantly overlap between normal subjects and patients with pituitary disease. Therefore pituitary testing has been widely used for the diagnosis and follow-up of pituitary disease.For example, provocative tests are fr...

Long-acting somatostatin analogues normalize serum IGF-I levels in about 65% of acromegalic patients. Somatostatin analogs reduce GH secretion but also induce GH resistance of the liver because of low portal insulin levels; i.e. patients have a relative high GH level and a GH resistance of the liver which results in a relative low IGF-I action because of high IGFBP1 levels, but the other tissues still have normal GH sensitivity. One might predict that long-term follow-up of tr...

Background: Alongside various physical symptoms, patients with high levels of cortisol, such as typically found in Cushing’s disease, often display a wide variety of neuropsychiatric symptoms such as depression, psychosis, mania and cognitive impairments. This indicates involvement of the central nervous system in hypercortisolism.Methods: Various neuroimaging approaches can be used to examine the effects of hypercortisolism on the brain. The freque...

Background: Immune checkpoint inhibitors (ICI) targeting cytotoxic T-lymphocyte-associated protein 4 (CTLA-4), programmed cell death protein 1 and its ligand (PD-1/PD-L1) are the current standard-of-care for many advanced cancers (1). This novel therapeutic approach comes with its costs in the form of immune-related adverse events (irAE). The underlying mechanisms are not yet fully understood. We explore the role of HLA in endocrinopathy related to ICI therapy using an interes...

Introduction: In 1960, Van Wyk and Grumbach described the association of hypothyroidism and precocious puberty. Hypothyroidism leads to delayed bone age and a reduction in growth rate by reducing the amplitude of GH pulses. When precocious puberty is associated with thyroid hypofunction, estrogen action on the epiphyseal plates reduce this delay. We report the case of a child who developed incomplete puberty and reduced growth rate, caused by primary hypothyroidism.<p clas...

Adrenocortical carcinoma (ACC) is an aggressive cancer, with, in its advanced stages, a median 5-year survival rate of less than 15%. ACC is rare in humans, but in dogs the incidence is at least 100 times higher. Because these dogs receive medical care, have an intact immune system, and have inter-individual and intratumoral heterogeneity, the dog is a unique spontaneous animal model to study new treatment options for ACC. However, to determine similarity of canine and human A...