Endocrine Abstracts

Background: Hyperandrogenism is infrequent in menopause, being the most common cause benign pathologies. However, it can also be produced by an ovarian or adrenal tumour. Correct diagnosis and location can be challenging because small lesions may not be visible with modern imaging studies. We report a case of ovarian stromal hyperplasia where selective venous catheterization and hormonal sampling were performed to find the origin of excessive androgen production.<p class="...

Aims: To evaluate real-world efficacy of closed-loop systems (CLS) (MinimedTM 780G, DBLG1 -Diabeloop- and Control-IQTM Tandem) as well as to assess those predictive factors related with the achievement of near-normal glycemic control.Methods: A prospective, longitudinal, and observational study was performed. It included T1D adults who initiated CLS between April and December 2021 in our hospital and provided data for &gE;3 months (...

Introduction: Graves’ ophthalmopathy (GO) is an orbital autoimmune disorder closely linked to thyroid autoimmunity, mainly Graves’ disease. After an initial progressive inflammatory period (active phase), GO stabilizes and eventually subsides (inactive phase). Treatment should rely on a thorough assessment of the activity and severity of GO and its impact on the patient’s quality of life. Patients with active, mild disease generally benefit from local therapies ...

Introduction: Kallmann Syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism with anosmia or hyposmia. It can be associated with X-linked ichthyosis (XLI) in a contiguous gene syndrome related to a Xp22.3 region deletion, which include KAL1 and STS genes.Case report: We report a case of a 32-year-old male with ichthyosis referred for evaluation of high height (2.07 m), overweight (BMI 29.6 kg/m2) ...

Background: Congenital adrenal hyperplasia (CAH) is a rare autosomal recessive disorder, of which 21-hydroxylase deficiency (21OHD) is the most frequent form. 11 beta-hydroxylase deficiency (11bOHD) is the second most common type of CAH. This pathology results from inactivating mutations in CYP11B1 gene.Case presentation: We describe a case of a 48-year-old woman with 11bOHD, presented with hypokalemia hypertension, early adrenarche and mild vir...

Background: Gestational diabetes (GD) prevalence is increasing as the obesity epidemic continues. Its management involves hospital visits every 1–2 weeks. In 2016 our team developed a web-based telemedicine platform (SineDie©). This tool operated as a clinical decision support system designed to manage the treatment of patients with GD. SineDie© automatically prescribed diet recommendations and identified the necessity of insulin treatment....

Introduction: Surgical resection is currently considered the standard treatment for symptomatic insulinomas; however, its morbidity is high (>10%) and it is restricted to suitable candidates. In recent years, alternative minimally invasive therapies, such as endoscopic ultrasound (EUS)-guided ethanol ablation (EA), have emerged as new therapeutic options, especially for small lesions or poor surgical candidates. We report two cases of insulinoma ablated with EA.<p clas...

Introduction: Most serum cortisol (SeC) is linked to cortisol binding globulin and albumin. When the synthesis of proteins is reduced or increased, SeC does not reflect the actual free cortisol (FC) (active fraction). Methods for FC analysis are very laborious and expensive, which makes difficult to use them as a routine laboratory tests. Salivary cortisol (SaC) mirrors the FC in serum, being its measurement easier and cheaper. The determination of SaC, instead of tot...

Introduction: Primary bilateral macronodular adrenal hyperplasia (PBMAH) is a rare cause (<2 percent) of endogenous Cushing’s syndrome, usually characterized by enlarged adrenal glands containing multiple functioning nonpigmented macronodules. PBMAH was thought to be sporadic, but recently a genetic component has been described. Specifically, inactivating mutations in ARMC5 (Armadillo-repeat containing 5), a suppressor gene, have been found in many familial c...

Introduction: Stiff person syndrome (SPS) is a rare neurological disease resulting in stiffness and spasm of muscles and, as a consequence, severely impaired ambulation. Pathophysiology of the disease is based on an increased muscle activity caused by the decreased level of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA) due to an autoimmune attack against glutamic acid decarboxylase (GAD); enzyme which is also one of the main autoantigens of type 1 diabetes mel...