Endocrine Abstracts

IntroductionEven in healthy men, androgen levels start decreasing from early adulthood and these decreases are more pronounced in men with an increasing body mass index (BMI). It is, however, unclear to what extent changes in other indices of body composition and metabolic health are associated with changes in sex steroid exposure in healthy men over time.ObjectiveInvestigating longitudinal changes in body co...

Introduction: Long-acting growth hormone (LaGH) therapy has emerged as a newer treatment option for children, with the potential to improve adherence and compliance. Clinical trials have shown LaGH formulations to be effective and safe in children with GH deficiency (GHD). Somatrogon (Ngenla) is licensed for use in children with GHD over than 3 years of age.Objective: We report the real-world experience of using once wee...

Case report: A 55 years old Caucasian gentleman presented with recurrent episodes of unexplained hypoglycaemia with slurred speech, lethargy, myoclonic jerks and seizures. He had background of craniopharyngioma at the age of 17 and underwent surgery but no radiotherapy. Subsequently he was started on hormonal replacement with desmopressin, levothyroxine, hydrocortisone, testosterone and genotrophin and remained stable on treatment for 38 years. Hypoglycaemia work up revealed b...

Androgens initially drive prostate tumour growth. Although in advanced disease there is no longer dependence on circulating androgens, the androgen receptor (AR) remains a key driver of this lethal stage thus new ways to inhibit its activity are required. MicroRNAs play vital roles in prostate cancer (PCa) development, progression and metastasis. Previous studies have examined microRNAs dysregulated in PCa, and also identified androgen-regulated microRNAs. We approached microR...

Primary adrenal insufficiency in children can be due to mutations in >20 genes, most commonly CYP21A2, giving rise to 21-hydroxylase deficiency. Phenotypically these disorders overlap and present with conditions ranging from isolated (or familial) glucocorticoid deficiency (FGD) to syndromic disorders involving multiple tissues. Distinguishing between them can be problematic, especially where biochemical testing is not possible or not undertaken. Over the last 30 ...

Purpose: We aimed to validate the diagnosis and estimated national incidence of acromegaly reported in the Swedish National Patient Register (NPR), based on clinically reported International Classification of Diseases (ICD-codes), in comparison with the Swedish Pituitary Register (SPR).Methods: All patients in NPR or SPR between 1991-2018 with the ICD-9 or ICD-10 diagnosis of acromegaly and age >18 years at diagnosis were included. The diagnosis was ...

Introduction: In many endocrine centres the 250μg Short Synacthen (Cosyntropin) Test (SST) is the reference standard for the diagnosis of adrenal insufficiency (AI) 1, but it is time consuming, expensive, and requires hospital attendance and venepuncture. The morning physiological peak of cortisol shortly after waking is a good predictor for a negative SST; however, a morning serum cortisol requires venepuncture. Serum cortisol and salivary cortisone correlate ...

Background: Prader-Willi syndrome (PWS) is a complex rare genetic disorder associated with hypothalamic dysfunction, pituitary hormone deficiencies, hyperphagia and (morbid) obesity. PWS is caused by loss of expression of paternally expressed genes on chromosome 15q11.2-q13. The most common genetic mechanisms leading to PWS are paternal deletion (DEL) and maternal uniparental disomy (mUPD). DELs can be subdivided in type 1 and (smaller) type 2 deletions (DEL-1, DEL-2). Most re...

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...

Since the discovery of mutations in succinate dehydrogenase (SDH) complex early this century, it has been shown that tumours underpinned by deficiencies in this metabolic enzyme will demonstrate altered cell metabolism. However, the precise nature of these changes remains poorly described. The metabolic network within cells is highly redundant, with multiple pathways capable of synthesising the required building blocks for cell growth. By the very fact that SDH-deficient cells...