TouchREVIEWS in endocrinology最新文献

Congenital adrenal hyperplasia, an innate error in adrenal steroid biosynthesis, triggers a wide range of consequences based on the level of enzyme blockade. Due to the various forms of enzyme deficiency and degree of penetration, the clinical features are very variable. In this case report, we present a form of congenital adrenal hyperplasia due to an enzymatic defect of CYP17A1, with a late diagnosis. The recognition of this pathology should occur as early as possible to avoid sequelae, both metabolic and psychological.

Long-chain fatty-acid oxidation disorders (LC-FAODs) are autosomal recessive inherited metabolic conditions that occur due to a disruption in the body's ability to perform mitochondrial beta oxidation. Expanded newborn screening is widening phenotypic understanding of these disorders, as well improving our knowledge of disease incidence. Management of these disorders is focused on avoidance of fasting, dietary changes and supplementation with energy sources that bypass the metabolic block. Recent US Food and Drug Administration approval of triheptanoin has improved the outcome for affected individuals. New research into dietary modifications and novel pharmacologic therapies continues for these disorders. In this article, we review the major LC-FAODs and their clinical presentation.

We describe the case report of 36-year-old female who presented to the emergency department with diabetic ketoacidosis. On detailed clinical examination, coarse facial features in the form of large fleshy nose, thick lips, prognathism, and thickening of hands and feet were noticed, suggestive of acromegaly. Subsequently, she was diagnosed with acromegaly due to somatotropinoma. Impaired glucose tolerance and diabetes mellitus are frequently associated with acromegaly. Persistent growth hormone excess impairs insulin sensitivity, increases gluconeogenesis, reduces glucose uptake in adipose tissue and muscle, and alters pancreatic β-cell function. Rarely, diabetic ketoacidosis can be the presenting manifestation, as seen in this case.

An adrenal oncocytic neoplasm is an extremely rare tumour arising from the adrenal gland and it should be considered in the differential diagnosis of an adrenal incidentaloma, since it is frequently non-functioning. The suspicion for malignancy is high when an adrenal incidentaloma is >4 cm in size; however, adrenal oncocytomas are large, measuring an average of 8 cm, are round and encapsulated, and normally have a benign behaviour. We present a case of a 55-year-old male patient with dyslipidaemia, medicated with simvastatin. Upon complaints of abdominal pain, the general physician asked for an abdominal ultrasound that revealed an adrenal lesion, further characterized with a computed tomography scan, which showed an adrenal lesion measuring 49 × 64 × 56 mm and a calcification focus. The patient was referred to the general surgery and endocrinology department. The analytical study was negative for pheochromocytoma or Cushing's syndrome, which allowed surgery to be conducted, as is recommended. The aim of this case report is to contribute to the knowledge on adrenal oncocytomas, since there is scarce information based on singular experiences.

The prevalence of type 1 diabetes (T1D) is increasing worldwide. T1D reduces life expectancy due to complications including cardiovascular disease. Sodium-glucose co-transporter (SGLT) inhibitors are a new class of drugs developed to treat type 2 diabetes (T2D), and now they can be used as an adjunct to insulin in T1D. In clinical trials, they have been shown to improve glycaemic control and decrease body weight without the risk of increased hypoglycaemia and with a reduction in insulin dose. Four SGLT2 inhibitors have been approved in Europe for the treatment of T2D, while only dapagliflozin and sotagliflozin, a dual SGLT1 and SGLT2 inhibitor approved in 2019, have been approved for the treatment of T1D. Both can be used as an adjunct therapy in combination with insulin in adults with a body mass index (BMI) of ≥27 kg/m², inadequately controlled with insulin. In Europe, dapagliflozin is the only currently available SGLT2 inhibitor indcated as adjunct therapy for patients with T1D. The subgroup of patients with a BMI of ≥27 kg/m² from the DEPICT-1 and -2 trials (Dapagliflozin Evaluation in Patients with Inadequately Controlled Type 1 diabetes) showed similar reduction in hyperglycaemia and body weight but no significant increased risk of diabetic ketoacidosis (DKA) than the overall trial population. The risk of DKA has been shown to increase in patients with T1D treated with adjunct therapy with SGLT2 inhibitors, and studies on sotagliflozin and empagliflozin have suggested a dose response. Thus, it is important to educate patients and doctors how to recognize symptoms of upcoming DKA and mitigate it. An independent DKA education programme has recently been developed to instruct patients with T1D being treated with SGLT inhibitor therapies with and without insulin pumps to prevent, identify and treat DKA. Despite these considerations, clinical trials support the use of SGLT2 inhibitors in the management of T1D. The benefits and potential risks of dapagliflozin as an adjunct therapy to insulin in adults with T1D should be considered in each individual case. Here we discuss the efficacy and safety of dapagliflozin as adjunct therapy in patients with T1D.

Immune checkpoint inhibitors are potent and promising immunotherapeutic agents that are increasingly used for the management of various types of advanced cancers. The widespread approval of this group of drugs simultaneously revealed immune-related adverse events as unique side-effects. Endocrinopathies are one of the most common immune-related adverse events. The precise pathogenic mechanisms for these endocrinopathies are still unclear. Though few of the endocrinopathies are reversible, calling for only symptom control, most are irreversible, requiring multiple long-term hormone replacement therapies. However, in contrast to other organ-specific immune-related adverse events, patients with endocrinopathies can continue their immune checkpoint therapy, provided the hormone replacement therapy is adequate and the symptoms are controlled. Though patients who have developed immune-related adverse events demonstrate superior antitumor activity and overall survival, due to the high morbidity associated with the immune-related adverse events, researchers are trying to uncouple the antitumour activity associated with immune checkpoint inhibitor therapy from the immune-related adverse events, to preserve antitumour activity without adverse events.

The adoption and the maintenance of a proper training routine are critical elements for optimal blood glucose management and overall health improvement in individuals with diabetes. Physical activity reduces cardiovascular risk, contributes to weight loss and improves overall wellbeing. A combination of aerobic and resistance exercise maximizes the benefit of daily training. The risk of exercise-induced complications varies depending on the activity type and the presence of diabetes-related complications. Prescribing a personalized exercise programme may reduce the risk and maximize the benefit of physical activity in patients with diabetes.

Every 20 seconds a limb is amputated somewhere in the world due to diabetes. This is a global health problem that requires a global solution. The International Conference on Medical Image Computing and Computer Assisted Intervention challenge, which concerns the automated detection of diabetic foot ulcers (DFUs) using machine learning techniques, will accelerate the development of innovative healthcare technology to address this unmet medical need. In an effort to improve patient care and reduce the strain on healthcare systems, recent research has focused on the creation of cloud-based detection algorithms. These can be consumed as a service by a mobile app that patients (or a carer, partner or family member) could use themselves at home to monitor their condition and to detect the appearance of a DFU. Collaborative work between Manchester Metropolitan University, Lancashire Teaching Hospitals and the Manchester University NHS Foundation Trust has created a repository of 4,000 DFU images for the purpose of supporting research toward more advanced methods of DFU detection. This paper presents a dataset description and analysis, assessment methods, benchmark algorithms and initial evaluation results. It facilitates the challenge by providing useful insights into state-of-the-art and ongoing research.

Renal tubular acidosis (RTA) is a condition characterized by normal anion gap metabolic acidosis. Type 1 and type 2 RTA are the most common, and are caused by defective secretion of hydrogen ions and impaired absorption of bicarbonate, respectively. Long-standing uncorrected acidosis can lead to metabolic bone disease (MBD). Rickets and osteomalacia remain the commonest manifestations of uncorrected RTA. In addition, there can be a myriad of other skeletal manifestations like fractures, pseudofractures, secondary osteoporosis and even sclerotic bone disease. The postulated mechanism for bone involvement includes acidosis-mediated exaggerated osteoclastic bone resorption. Other contributory factors include abnormal renal handling of phosphate leading to hypophosphataemia in proximal RTA, and impaired vitamin D metabolism and action. In distal RTA, hypercalciuria and secondary hyperparathyroidism may play a key role for bone involvement. Recognizing the disease in its early course is important to prevent permanent sequelae of skeletal involvement. Most of these patients may, in fact, undergo orthopaedic interventions without primary correction of acidosis. We describe five cases who presented with MBD in varied forms. While evaluating the aetiology of MBD, they were diagnosed with RTA. Subsequently, we attempted to analyse the causes of RTA. Although the common causes were ruled out, genetic aetiology could not be ascertained due to resource constraints. RTA remains an important differential diagnosis of MBD. More awareness is required to diagnose the disease early and to treat it adequately. Our case series is an attempt to provide the clinical, biochemical and skeletal spectrum of RTA. In addition, we have attempted to provide algorithms for the approach and evaluation of RTA along with their varied causes.

Progressive hirsutism and moderate to severe male-pattern balding in women requires exclusion of an adrenal or ovarian tumour, especially in the presence of significantly elevated androgen levels. We present the case of a 68-year-old woman who was referred to an endocrinology clinic with insidious onset excessive facial hair growth and loss of scalp hair. Her testosterone levels were significantly elevated at 13 nmol/L (normal range: 0.1-1.4 nmol/L), although dehydroepiandrosterone sulphate and 17-hydroxyprogesterone levels were normal, suggestive of an ovarian source of androgens. Repeated radiologic investigations, including pelvic ultrasound, and abdominal and pelvic computed tomography, could not identify the obvious source of androgens. Based on strong clinical suspicion of an ovarian tumour, she underwent an elective salpingo-oophorectomy, which detected an occult Leydig cell tumour on histopathological analysis. Post-operatively, her hyperandrogenic features significantly improved and testosterone levels normalized.