Endocrine Abstracts

Aims: Despite the plethora of testosterone therapies, Successful testosterone replacement remains a challenge. We assessed patient empowerment, treatment satisfaction and adherence to current testosterone replacement guidelines.Methods: Data were collected from case notes and a testosterone diary questionnaire in 16-patients with testosterone deficiency.Results: Median age was 46-years (range 21–69). All patients received an e...

The synacthen test is a commonly performed endocrine test; we have looked at whether we overuse this test. Of 150 synacthen tests performed in one year 52 were randomly selected for audit. 19 were undertaken for symptoms alone (Group 1); 16 for a low random cortisol (below 261 nmom/l – Group 2); 17 for electrolyte disturbances (either low sodium, high potassium or both – Group 3). 3 in Group 2 and 1 in Group 1 were abnormal but in no patient with a random cortisol ab...

Key genetic contributors are recognised to underlie the phenotype of central precocious puberty (CPP), including the imprinted genes Makorin ring finger protein 3 (MKRN3) and Delta-like homolog 1 (DLK1), alongside Kisspeptin-1 (KISS1) and (KISSR1). These genes have implicated mis-regulation of transcriptional control of the kisspeptin and gonadotropin-releasing hormone (GnRH) neuroendocrine systems in onset of CPP. However, many familial cases of CPP remain without clear a gen...

Mutations in each of the 4 subunits of succinate dehydrogenase (SDH) – SDHA, B, C and D predispose to development of phaeochromocytomas and paragangliomas. Loss of SDH function leads to accumulation of succinate which acts as an oncometabolite to drive tumourigenesis. However, mutations in SDHB have an increased likelihood of causing metastatic disease, compared to mutations in the other SDH subunits. The reasons behind this increased risk remai...

Familial glucocorticoid deficiency (FGD) is characterised by isolated glucocorticoid deficiency with retention of normal mineralocorticoid production. FGD causing mutations in the MC2R accessory protein, MRAP, often occur at the canonical donor splice-site of intron 3, presumed to result in skipping of the first coding exon with unknown consequences at the protein level. DNA from three patients (0 - 6 months) with high ACTH and/or low cortisol levels underwent whole e...

Introduction: The FreeStyle Libre is increasingly employed in the management of T1DM. This audit examined if users are meeting the recommended competencies set out in the London prescribing guidelines, to ascertain if users are aware of and utilising inbuilt features of the Libre, to identify if user training can be enhanced, and to see if Libre use improves patients’ quality of life as a result of Libre use.Methods: The audit was conducted via a st...

Background: Acromegaly is a rare disease with a long and complex diagnostic pathway leading to a substantial diagnostic delay associated with an increased risk of comorbidities and psychosocial deterioration. Qualitative methods are the gold standard to explore patients’ perspectives, focusing on how individuals understand and report what they are experiencing. To the best of our knowledge, no qualitative study has yet examined the diagnostic pathway of subjects with acro...

The nodular goiter is the most prevalent thyroid disorder. Its prevalence increases with age and reaches over 70%. The aim of the study was to compare the nodule prevalence in two population-based studies, carried in Bulgaria in 2006 and 2012.Material and methods: Two thousand four hundred and two subjects (1347 female and 1053 male, age range 20–94 years) were included in 2006 and 2022 (1073 female and 949 male, 20–88 years) in 2012. All subje...

Equine Chorionic Gonadotrophin (eCG) is a heterodimeric glycoprotein produced by terminally differentiated, bi/multi-nucleate trophoblast cells in the placenta of horses and humans. It is responsible for the maintenance of early pregnancy via rescue of the corpus luteum and subsequently promotion of progesterone production. The beta subunit of eCG is expressed at levels ten-fold lower than that of the alpha subunit and confers the glycoproteins specificity to the placenta. Ver...

Placental chorionic gonadotrophin (CG) hormone secretion, critical for maintenance of early pregnancy, is dependent on differentiation of specialised CG-secreting binucleate trophoblast (horse) and syncytiotrophoblast (human). The most abundant genes expressed by binucleate cells are the α and β subunits of equine CG. We recently showed the transcription factor glial cells missing 1 (GCM1) is rapidly induced during differentiation of binucleate trophoblast and mRNA e...