Endocrine Abstracts

Background: IRS2-deficient (IRS2-/-) mice are considered a good model to analyze the development of diabetes as some of them present an increase in glycemia comparable to that observed in diabetes onset in humans, whereas a high proportion of these mice do not develop diabetes. Energy homeostasis regulation by the hypothalamus can be disturbed by an inflammatory environment, which predisposes an individual to the onset of diabetes. Saturated fatty acids induce hypot...

Introduction: Besides the benefits of low-to-high intensity physical activity (PA) on metabolism, it is currently emerging that excessive PA can be deleterious with serious implications not only in muscle but also, bone remodeling. Despite recent findings remains still unclear and controversial, we hypothesize that exercise of impact, like mountain cycling, beyond influencing the metabolic and skeletal profile, represents an important model of profoundly changes in bone metabo...

Vitamin D exists as two forms; D3 (UV) and D2 (plant derived). Measuring the metabolite 25-hydroxyvitamin D (25OHD) is routinely applied in research and clinical laboratories to assess vitamin D status. The Institute of Medicine and Society for Endocrinology have previously set recommended vitamin D guidelines based on combined 25OHD3 and 25OHD2 serum concentrations. In order to achieve accurate quantitation of these metabolites, the respective C3 epimers must be separately qu...

Context: Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer.<p class="abstext...

Context: Polycystic ovarian syndrome (PCOS) is the most common endocrine disorder in women of classic androgen synthesis. Recent work has highlighted that impaired DHEA sulfation results in enhanced androgen production. Here, we evaluated the relationship between DHEA and DHEAS and androgen excess and metabolic phenotype in PCOS.Patients and methods: We compared 65 women with PCOS to 35 healthy women matched for age and body mass index (BMI). All subject...

Background: Remote recurrence and metastasis are unusual complications in childhood-onset adamantinomatous craniopharyngioma mainly occurring either along a previous surgical route or by seeding via cerebrospinal fluid.Case description: An 11-year-old female patient initially presented with headache and neck pain as well as nausea over the course of 2 months. A sellar/suprasellar mass (4.0 cm×4.0 cm 5.0 cm) was detected on magnetic resonance imaging...

Background: Cushing’s syndrome (CS) is caused by endogenous cortisol excess and is associated with significant morbidity. Twenty-four-hour urinary cortisol is one of the most useful tools to diagnose CS although it has limitations, especially in “mild” and “subclinical” forms of cortisol excess. We hypothesized that given the diurnal rhythm of physiological cortisol secretion, night-time urinary glucocorticoid excretion should be lower than day-time ex...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterised by hypercalcaemia and inappropriately low renal calcium excretion. FHH can be classified into three types: FHH1, caused by calcium-sensing receptor (CaSR) loss-of-function mutations, accounting for >65% of cases; FHH2, due to loss-of-function mutations of the G-protein α11 subunit (Gα11); and FHH3, resulting from loss-of-function mutations in the adap...

Nicotinamide nucleotide transhydrogenase (NNT) is a NADPH-generating mitochondrial proton pump with a central role in mitochondrial antioxidant pathways. Recent studies revealed inactivating NNT mutations in patients with familial glucocorticoid deficiency, indicating a selective susceptibility of the adrenal cortex to NNT deficiency and oxidative stress. Here we explored the potential value of NNT as a therapeutic target in adrenocortical cancer. We delineated the distinct ef...

Congenital adrenal hyperplasia (CAH) is one of the most common inherited disorders. The majority of CAH cases are due to 21-hydroxylase deficiency (21-OHD) caused by mutations in CYP21A2. Because of the profound impact of steroids on physiology and gene expression, the imbalances in steroid hormones resulting from 21-OHD are supposedly leading to a whole-organism response on transcriptome and metabolome level. The systemic consequences of severe 21-OHD during early development...