Endocrine Abstracts

A 55 year-old Nepalese lady, previously fit and well, presented to her GP 2 months ago with palpitations and weight loss. She was diagnosed with Graves thyrotoxicosis based on her clinical history and biochemistry, and was started on carbimazole 40 mg daily. She suffered from COVID19 infection a month later and started self-isolating. She continued to feel unwell for three weeks but did not seek urgent medical attention due to the perceived general recommended isolation guidel...

Background: Patients taking hydrocortisone replacement for primary or secondary adrenal failure require individual adjustment of their dose. Previous observations in our department suggest that total serum cortisol levels achieved following an afternoon or evening dose of 5 mg hydrocortisone are almost as high as those that result from a 10 mg dose in the early morning; and that the ‘area under the cortisol curve’ (AUC) generated by an evening 5 mg dose is broader th...

Objective: To assess the effects of hormone replacement therapy on bone mineral density (BMD), biochemical markers of bone turnover, and lipid profiles in postmenopausal women.Methods: We retrospectively reviewed the medical records of 199 postmenopausal women who had received care at the Department of Obstetrics and Gynecology of Catholic University Seoul St. Mary’s Hospital between January 1994 and December 2008. The patients were divided into the...

Glucagon-like peptide-1 (GLP-1) is an incretin hormone playing an important role in glucose-dependent insulin secretion and β-cell growth. However, GLP-1 is rapidly degraded by dipeptidyl peptidase IV (DPP-IV) in vivo. Many attempts have been made to develop long-acting GLP-1 analogs with chemical modification, amino acid substitution, and fusion protein technology. We previously showed that the N-terminal Ala- or Gly-extended GLP-1 and human immunoglobulin ...

Background: FGD is an autosomal recessive disorder causing glucocorticoid deficiency. Mutations in the ACTH receptor (MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 & 2 respectively. All the reported MRAP mutations result in abolition of a functional protein. This is reflected clinically as type 2 patients present early, no patient described to date has presented later than 1.6yrs. In contrast FGD type 1 mutations are usually missense and patients have a medi...

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by ACTH resistance resulting in isolated glucocorticoid deficiency with preserved mineralocorticoid secretion. Approximately 25% of cases result from mutations in the ACTH receptor (MC2R) and 20% result from mutations in the Melanocortin 2 receptor accessory protein (MRAP). MRAP is a small single transmembrane domain protein that is specifically required for trafficking MC2R to the ce...

The GH receptor antagonist pegvisomant entered clinical trials in 1997 and was (UK) marketed in 2005. There is little long-term experience with this novel drug. We report the experience from two centres that used common protocols to manage 58 patients (36 male, median age 53, range 27 78) since 1997. Before commencing pegvisomant, patients had IGF-I above the upper limit of normal (ULN) of age-related reference ranges (median 1.8 xULN, range 1.2–4.1 xULN) and were uncontr...

Endocrine-Related Cancer, 2019, 27(2): 81–95 (DOI: https://doi.org/10.1530/ERC-19-0095)...

Background: Delayed thyroid-stimulating hormone (TSH) recovery during treatment of Graves’ disease is caused by long-term excessive thyroid hormone, which results in down-regulation of pituitary thyrotropic cells. However, it is unknown whether delayed TSH recovery exists after levothyroxine (LT4) dose adjustment in patients with differentiated thyroid cancer (DTC) who are taking a suppressive dose of LT4.Methods: We retrospectively reviewed 97 DTC ...

Background: Anaplastic thyroid carcinoma (ATC) is the most aggressive type of thyroid cancer and has no effective therapy. Due to its dismal prognosis, it is vital to understand the genetic alterations of ATC and identify effective molecular targets. We performed targeted next-generation sequencing to investigate the mutational profile of ATC using a massive parallel sequencing approach.Methods: DNA from formalin-fixed, paraffin-embedded archival samples...