Endocrine Abstracts

Congenital hypogonadotropic hypogonadism (CHH) is a rare condition characterized by impairment of pubertal development, that can be associated with hypo/anosmia (Kallmann Syndrome, KS) or normosmia (nCHH). A genetic basis can be identified in nearly 50% of cases, with increasingly common detection of oligogenicity. CHH has a strong male predominance (MtoF ratio 5–3:1), although sex ratio for CHH in families with autosomal inheritance has been proven to be close to equal....

Introduction: immune reconstitution therapies, which include cell-depleting monoclonal antibodies targeting CD20+ (ocrelizumab) or CD52+ (alemtuzumab) leukocytes, are approved for the treatment of multiple sclerosis. Autoimmune thyroid disease is the most common adverse effect of alemtuzumab, but some cases of autoimmune diabetes have been reported. To date, diabetes mellitus has not been reported after CD20-targeting monoclonal antibodies therapy. Case ...

Background: Late-onset central hypogonadism (LOH), whose prevalence is high among dysmetabolic males, impairs quality of life and increases cardiovascular risk. Although lifestyle modification is the first-line therapeutic strategy, it often fails in clinical practice, probably due to socio-cultural, economic and organisational barriers, as well as the lack of effective and sustainable intervention programs.Aim: To delineate sustainable physical exercise...

Mild hypothyroidism is a heterogeneous and frequent disorder in the general population that is due to autoimmune disease in most of the cases. TSH resistance is considered a rare genetic disease due to germline loss-of-function TSHR mutations. However, TSHR mutations have been mainly searched in patients with large TSH elevations and their actual prevalence among patients with mild TSH elevations (as those found in mild hypothyroidism) is so far unknown. In this study, we eval...

Background: Pubertal induction in girls with hypogonadism through estrogen replacement therapy (ERT) aims at mimicking physiological puberty. To date, the best induction regimen is still to be established.Aims: By setting up a multicentre clinical registry, we analysed longitudinal data on pubertal induction in girls with hypogonadotropic hypogonadism or premature ovarian insufficiency (congenital, acquired, isolated or associated with multiple pituitary...

Background: Differential diagnosis of ACTH-dependent hypercortisolism is crucial to indicate a proper treatment and is based on CRH-, high-dose dexamethasone suppression-test (HDDST) and pituitary MRI. However, up to 50% of cases of Cushing’s disease (CD) present a negative MRI or a visible lesion < 6 mm. In these patients, guidelines suggest to perform bilateral inferior petrosal sinus sampling (BIPSS) in order to establish a correct diagnosis. Aim of this study was ...

Parathyroid carcinoma (PC) is a rare neoplasia responsible for about 1% of primary hyperparathyroidism (PHPT). Differently from patients with its benign counterpart, the phenotype of these patients is characterized by severe PHPT and hypercalcemia. The aim of this study was to describe a series of PC casesrecorded in the regional cancer network of Piedmont and Valle d’Aosta, Italy (Rete Oncologica del Piemonte e della Valle d’Aosta) from 2007 to 2017, including 25 ...

Background: Several lines of evidence support the view that sarcopenia and osteoporosis are strictly connected. However, the capability of the updated sarcopenia definition to capture the concomitant presence of osteoporosis has been scarcely investigated. Aim: To assess the association between sarcopenia defined according to the revised criteria from the European Working Group on Sarcopenia in Older People (EWGSOP2) and osteoporosis in women with a frag...

Visceral adipose tissue (VAT) metabolic fingerprints differ according to the individual’s BMI and glycemic status. GLP-1 and Glucagon are two hormones that participate in energy homeostasis and glycemic control. Dual GLP-1/Glucagon agonists are a drug class under development for obesity and diabetes treatment. Although the pancreas and the liver are considered major GLP-1 and glucagon targets, these hormones act in other tissues, which could contribute for its effects on ...

Introduction: TSH-secreting pituitary adenomas (TSHomas) are a rare cause of central hyperthyroidism, accounting for less than 1% of all pituitary adenomas, with a prevalence in the general population of 1-2 cases per million.Case Presentation: A 45-year-old female patient presented in 2009 with hypertension and tachycardia: blood tests revealed an inappropriately normal TSH with high fT3/fT4 levels and primary hyperaldosteronism. She declined further in...