Endocrine Abstracts

ContextGenetic obesity, including syndromic and non-syndromic forms, represent a minority of cases but gene dysregulations make their management particularly difficult. Among them, Beckwith–Wiedemann syndrome (BWS) is a multisystem human genomic imprinting disorder characterized by overgrowth, macroglossia, abdominal wall defects, hemi hyperplasia, enlarged abdominal organs, and an increased risk of embryonal tumours. The syndrome is caused by genet...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary autosomal dominant tumor syndrome caused by inactivating mutations of the tumor suppressor gene MEN1 which encodes the protein menin. It is characterized by the occurrence of tumors involving two or more endocrine glands, primarily parathyroid, entero-pancreatic, and anterior pituitary, as well as non-endocrine neoplasms. Glucagonomas occur in fewer than 3% of patients with MEN1, causing hyper...

Mitotane therapy is associated with many side effects, including thyroid function perturbations mimicking central hypothyroidism, possibly due to laboratory test interference or pituitary direct effects of mitotane. Therefore, we aimed at investigating whether increasing concentrations of mitotane in the therapeutic range might interfere with thyroid hormone assays and evaluate the effects of mitotane on a mouse TSH- producing pituitary cell line. TSH, FT4 and FT<su...

Recent guidelines recommend to use the 1-mg DST to screen for subclinical hypercortisolism assuming that a post-DST cortisol >5.0 μg/dl define this condition. However, several experts suggest a more sensitive cut-off at 1.8 μg/dl while others consider mandatory to confirm unsuppressibility with a 8-mg DST. A consecutive series of 64 patients (22 men, 42 women, aged 28–81 years) with clinically inapparent adrenal adenoma were studied between 2005 and 2007. Th...

Objective: The Antiphospholipid Syndrome (APS) is a thrombophilic disorder characterised by recurrent venous and/or arterial thromboses and increased pregnancy morbidity. There is growing evidence supporting a functional interplay between the neuroendocrine and immune system; the hypothalamic-pituitary-adreal (HPA) axis plays a pivotal role in this network. Previous studies have described normal cortisol levels in APS patients while occurrence of acute adrenal failure was repo...

Objective: Seventeen patients (9 women, 8 men aged 36 years, 22–58) radically resected for ACC were treated with adjuvant mitotane and prospectically followed from 2000 to 2006.Methods: Stage of ACC: was: 1 stage I,; 12 stage II, 4 stage III; Weiss score 6, 3–9; Ki67% 20, 4–67. Eleven patients had functional tumors. Median duration of treatment was 15 months (range:4–84) and 14 patients are currently on mitotane, 2 died, 1 discontinue...

N363S polymorphism of the human glucocorticoid receptor gene has been detected in the heterozygous state in approximately 3–9% of general European population. This variant has been associated with increased sensitivity to glicocorticoids, increased insulin response to dexamethasone, a tendency towards lower bone mineral density, increased body mass index, and unstable angina. However, other reports found no associations with these pathological conditions. We assessed the ...

BackgroundIn lipodystrophy (LD) adipose tissue function is impaired, leading to a severe metabolic syndrome. Familiar Partial LD (FPLD) type I (Kobberling Syndrome) overlaps with Cushing’s syndrome phenotype. The latter and the metabolic impairment observed in FPLD1 may suggest a crosstalk between the HPA axis, assuming that leptin sensitivity is preserved in this context. We aimed to evaluate if leptin levels are associated with glucocorticoid acti...

Introduction: Lipodystrophy syndromes are characterized by a progressive metabolic impairment secondary to adipose tissue dysfunction and genetic background. The role of microbiota is still uninvestigated.Objective: Evaluate the gut microbiome ecology in relation to dietary and clinical parameters in two infant siblings with congenital generalized lipodystrophy type 4 (CGL4) before and after treatment with recombinant leptin.Method...

Aim: To evaluate: 1) clinical and epidemiological characteristics of outpatients transitioned from Pediatrics Endocrine (PED) to Adult Endocrine Department (AED) in a tertiary Centre; 2) transition process characteristics, and predictive factors of drop-out.Patients and methods: Demographic, clinical, and transition features of 170 consecutive patients with paediatric onset of chronic endocrine or metabolic disease (excluded type 1 diabetes) who transiti...