Endocrine Abstracts

Background : The pandemic caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is of an unprecedented scale, with an ever-growing impact on healthcare systems. The clinical presentation of coronavirus disease 2019 (COVID-19) is diverse, ranging from asymptomatic illness to respiratory failure requiring admission to the intensive care unit (ICU). Risk factors for severe presentation include old age, male gender, underlying comorbidities such as metabolic syndr...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...

Objectives: Fine needle aspiration biopsy (FNAB) together with ultrasonography is a necessary tool for diagnosis and follow up of thyroid nodules. Molecular testing is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology revised in 2017. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: Since 2017 we have analyzed 1171 samples of patients...

PAPS (3′-phospho-adenosine-5′-phosphosulfate) synthases provide the cofactor PAPS for all human sulfation pathways. The cytoplasmic sulfotransferase SULT2A1 uses PAPS mainly to sulfate the androgen precursor DHEA (dehydroepiandrosterone). Apparent SULT2A1 deficiency is caused by mutations in the gene coding for PAPSS2; suggesting some form of PAPS synthase-sulfotransferase pairing. Knockdown studies within human adrenocortical NCI-295R ce...

Background: Male sexual dysfunction is common in obesity with complex underlying mechanisms. Testosterone replacement has often been initiated in clinical practice in the presence of sexual dysfunction and male obesity-associated secondary hypogonadism. The benefits to sexual functioning, however, are not well documented. The aims of the study were to investigate the relationship between sexual function and hypogonadism in severe obesity and to understand the impact of bariatr...

Background: Emerging evidence suggests that impaired high density lipoprotein (HDL) function is associated with cardiovascular disease (CVD). HDL is essential for removing excess circulating cholesterol by reverse cholesterol transport (RCT). Additionally HDL reduces inflammation and oxidative stress, especially through paraoxonase-1. Whereas HDL’s capacity to accept cholesterol from peripheral cells is key (i.e. cholesterol efflux capacity (CEC)), successful RCT depends ...

PAPS (3′-phospho-adenosine-5′-phosphosulfate) synthases provide the cofactor PAPS for all human sulfation pathways. The cytoplasmic sulfotransferase SULT2A1 uses PAPS mainly to sulfate the androgen precursor DHEA (dehydroepiandrosterone). Apparent SULT2A1 deficiency is caused by mutations in the gene coding for PAPSS2; suggesting some form of PAPS synthase-sulfotransferase pairing. Knockdown studies within human adrenocortical NCI-295R ce...

Background: Male sexual dysfunction is common in obesity with complex underlying mechanisms. Testosterone replacement has often been initiated in clinical practice in the presence of sexual dysfunction and male obesity-associated secondary hypogonadism. The benefits to sexual functioning, however, are not well documented. The aims of the study were to investigate the relationship between sexual function and hypogonadism in severe obesity and to understand the impact of bariatr...

Background: Emerging evidence suggests that impaired high density lipoprotein (HDL) function is associated with cardiovascular disease (CVD). HDL is essential for removing excess circulating cholesterol by reverse cholesterol transport (RCT). Additionally HDL reduces inflammation and oxidative stress, especially through paraoxonase-1. Whereas HDL’s capacity to accept cholesterol from peripheral cells is key (i.e. cholesterol efflux capacity (CEC)), successful RCT depends ...

Objectives: Molecular testing of fine-needle aspiration biopsy (FNAB) samples is increasingly used mainly for indeterminate categories of the Bethesda System for Reporting Thyroid Cytopathology. Our aim was to introduce a routine molecular analysis of the main genetic causes of thyroid cancer.Methods: In total, 1354 FNAB samples of thyroid nodules were analyzed. Testing procedures mainly in samples evaluated as Bethesda categories III and above were grad...