Endocrine Abstracts

A 36-year-old woman in follow-up due to early ovarian failure of idiopathic origin. No family history of interest. History of menarche at 12 years of age with regular menses until 18 years of age, when it begins with amenorrheic spells lasting up to 8 months. Laboratory tests revealed hypergonadotropic hypogonadism with negative ovarian autoantibodies, normal karyotype, and gynecological ultrasound showing a normal-looking uterus with slight bilateral ovarian atrophy. Negative...

Introduction: After progression on conventional treatment options, some patients with advanced ACC are offered experimental Phase I therapies. The outcomes of these patients have not yet been formally evaluated. This study aims to describe the experience of refractory ACC patients treated on Phase I clinical trials at the RMH.Methods: We retrospectively reviewed the records of metastatic ACC patients consecutively treated in our Drug Development Unit bet...

Introduction / Background: Patients with advanced GEP-NENs often present with metabolic disorders and oncological treatments may increase malnutrition risk as well as alterations on body composition. Several studies have suggested that sarcopenia is independently associated with a worse prognosis in oncological patients. Sarcopenia predicts survival regardless of body weight; moreover, a reduced muscle mass is not only observed in cachectic individuals but also in overweight p...

Cyclophosphamide is an alkylating agent used in the treatment of malignant and autoimmune diseases. Severe hyponatraemia is a serious electrolyte disorder with life threatening neurological sequelae. We report a case of recurrent severe, symptomatic hyponatraemia that developed in a 61 year old female with systemic vasculitis and Sjogrens syndrome following low-dose cyclophosphamide.Case report: A 61 year old lady, with ANA positive systemic vasculitis p...

The hypoxia, associated to intra-uterine growth restriction, is related to high concentrations of IGFBP1 and unchanged concentrations of IGF1 in animals. Nevertheless, during threatening life events, low IGFI concentrations and high IGFBP1 concentrations was reported. Furthermore, severe hypoxia increased the IGF1R expression of the neuronal growth cones in the ovine fetal brain. No information is available regarding the regulation of the IGF system by the acute hypoxia in hum...

Background: Relacorilant is a highly selective glucocorticoid receptor (GR) modulator in development for the treatment of endogenous Cushing syndrome (CS). Unlike the GR antagonist mifepristone, relacorilant lacks affinity for the progesterone and other receptors. In a phase 2 study in patients with CS (Pivonello et al, 2021), relacorilant provided clinically meaningful changes in several cortisol-excess-related comorbidities, including hypertension and hyperglycemia,...

The aim of this study was to analyze IGF1R gene expression in patients with idiopathic short stature (ISS) and correlate it with their GH and IGF1 status. In a previous study, we reported lower final height in subjects with ISS and GH peak ≥40 mU/l (Group1, n=16) compared to those with ISS and GH peak between 20 and 40 mU/l (Group2, n=15), after stimulation test (ITT) performed before or during puberty. Patients were 16–24 (Group1) and 15–26 (Grou...

Background: HIV-infected paediatric patients usually show impaired growth. Data reporting abnormalities in GH–IGF–IGFBPs system are scarce and inconclusive.Aim: To analyse blood concentration of the major components of IGF–IGFBPs system in these children and compare them to growth parameters and to cytokines levels.Methods: prepubertal HIV-infected children, aged 8.2±1.7 years, were evaluated every 6 months duri...

Introduction: Follicular Thyroid Carcinomas (FTCs) and Follicular Variant Papillary Thyroid Carcinomas (FVPTCs) may present absence of suspicious ultrasonography features more frequently than classic papillary carcinomas. Thus, some cases may be identified with the pattern of ‘low suspicion’ rather than intermediate or high suspicion defined in the American Thyroid Association (ATA) guidelines of 2015. These guidelines establish a size cutoff of 1.5 cm to recommend f...

Cretinism and neurological impairment are related to primary hypothyroidism (PHT) while children with central hypothyroidism (CHT) are usually diagnosed during the investigation process for short stature.Objective: To describe two children with unusual presentation of CHT.Case 1: Baby girl, born after 38 weeks of gestation, weighing 3000 g, and measuring 49.5 cm long was admitted when 3 months old. The parents reported stunted neur...