Endocrine Abstracts

Introduction: Maternal thyroid hormone during early pregnancy is important for proper fetal growth and development. Thyroid hormone receptors are widely expressed in placental tissue. Interestingly, thyroid dysfunction and suboptimal placental function have both been associated with pregnancy complications including preeclampsia, premature delivery and fetal growth restriction. First, we studied the association of the maternal thyroid and placental function and second, we inve...

Adrenocortical carcinoma (ACC) is a rare malignancy, but accounts for up to 11% of adrenal masses investigated in referral centres. Diagnosis remains a challenge. Up to two thirds are biochemically inactive, resulting from de facto enzyme deficiencies in the steroid hormone biosynthetic pathways, as shown by urine steroid profiling by gas chromatography-mass spectrometry. Increased metabolites of pathway intermediates in ACC discriminate it from benign adrenal lesions...

Background: Endogenous Cushing’s syndrome (CS) is caused by overproduction of cortisol. Current first-line screening tests for CS can produce false positive results due to medication use and stress, rely heavily on patient adherence to sampling instructions, and only measure short-term cortisol exposure which limits sensitivity. In general multiple tests are required to establish a diagnosis. Hair cortisol concentrations (HCC) offer a minimally invasive way to measure lon...

Background: Childhood obesity is an increasing health problem, affecting over 40 million children aged 0–5 years worldwide. It is associated with premature onset of diabetes and cardiovascular disease in adulthood. Pathologically elevated cortisol is known to induce obesity and cardio-metabolic complications, suggesting cortisol is implicated in the onset of obesity. Indeed, recent pilot-studies showed an increase in hair cortisol concentrations in obese adults and adoles...

Background: Kopetschke et al. (2009) suggested that nearly thirty per-cent of adrenal/extra-adrenal phaeochromocytoma were found incidentally1. However, they included cases from 1973 to 2007, whereas in the modern era CT and MR investigations are requested more frequently and earlier in the diagnostic algorithm.Methods: We report a pilot series of consecutive referrals to a tertiary centre for adrenal and extra-adrenal phaeochromocytoma from July ...

Ectopic adrenocorticotropin secretion (EAS) accounts for 10–15% of cases of Cushing’s syndrome and comprises a spectrum of lesions from highly malignant tumours to a variety of less aggressive neuroendocrine tumours. Selective removal of the primary lesion is the optimal management. It is therefore mandatory to localize the source of ectopic ACTH.As no single test is accurate enough to distinguish the ectopic from the pituitary sources of ACTH,...

Introduction: CHH is a genetic syndrome that combines reproductive and brain abnormalities. The brain phenotype has been incompletely characterized. We aimed to study neuroradiological and genetic features in this first Belgian series of patients with CHH.Methods: A series of 56 adult patients (48 males, 8 females) presenting with CHH was investigated for a panel of 16 genes related to hypogonadotropic hypogonadism by next generation sequencing on a MiSe...

Pheochromocytomas and paragangliomas (PPGL) are catecholamine-producing neuroendocrine tumors that display the highest heritability rate among all human tumors. Genomic analyses revealed the existence of 2 main clusters of PPGL, i.e. cluster 1 containing SDHx- and VHL-mutated tumors which do not produce epinephrine, and cluster 2 including epinephrine-secreting PPGL related to RET, NF1, TMEM127 and MAX mutations. Early diagnosis and treatment of PPGL is crucial to prevent adre...

Introduction: Few studies to date have attempted to evaluate the early efficacy of first-generation somatostatin analogs in somatotroph macroadenomas.Objective: To investigate the short-term efficacy of primary therapy with lanreotide 120 mg on tumor shrinkage and ophthalmologic symptoms in newly diagnosed patients with acromegaly.Design and patients: This single-center retrospective study included 21 patients who were newly diagno...

Polycystic ovary syndrome (PCOS) is the most common endocrine and metabolic disorder affecting women in reproductive age. Women with PCOS exhibit 2-3x higher levels of circulating Anti-Müllerian Hormone (AMH) as compared to healthy women and it is unclear if the elevation of AMH is a bystander effect or is driving the condition. Moreover, PCOS has a strong heritable component, however the etiopathology of the disease and the mechanisms underlying its transmission remain t...