Endocrine Abstracts

Sheue-yann Cheng, Gene Regulation Section, National Institutes fo Health, Bethesda, MD, USA AbstractSheue-yann Cheng, PhD, is the chief of the Gene Regulation Section, Laboratory of Molecular Biology, National Cancer Institute (NCI), National Institutes of Health (NIH) and an advisor for women scientists at the Center for Cancer Research, NCI. She is on the editorial boards of Thyroid, Endocrinology, and Expert Revi...

Background: Mutations in the RET proto-oncogene occur in about 70% of medullary thyroid cancers (MTC) and is central in its pathogenesis. Two highly selective RET inhibitors, selpercatinib and pralsetinib, are FDA/EMA-approved in RET-altered thyroid cancers. We share our experience of these drugs in metastatic MTC.Methods: Data were collected retrospectively from 19 patients commenced on selective RET inhibitors for MTC ...

Almost all tumours display increased activity of components of the phosphoinositide 3-kinase (PI3K) signalling pathway. In particular, activating mutations in the PI3K catalytic subunit, p110alpha, and loss of function mutations of the opposing PTEN phosphatase are amongst the most frequent alterations in human cancers. Our current work aims to understand how loss of PTEN function contributes to tumour development through two related projects. Firstly, we are attempting to add...

Introduction: Cushing’s Syndrome is caused by elevated levels of cortisol and is characterized by dozens of non-specific physical, metabolic, and neuropsychological symptoms. The extent of damage a patient will face is directly related to time to diagnosis, experience of the doctors and surgeon, and the support and education they receive after surgery. The spectrum of long-term needs faced by patients who have been exposed to prolonged elevated cortisol are not well repre...

Patients with mutations of the thyroid hormone receptor α (THRA) gene display classic features of hypothyroidism with growth and developmental retardation, skeletal dysplasia, and severe constipation, but with only borderline-abnormal thyroid hormone levels. These patients are heterozygotes, indicating that TRα1 mutants act in a dominant negative manner to mediate the clinical manifestations in these patients. However, the molecular mechanisms by which these...

The thyroid hormone receptors (TRs) are ligand-dependent transcription factors regulating growth, development, and differentiation. That TRs are cellular homologs of the retroviral v-erbA oncogene suggests their possible involvement in carcinogenesis. Recent studies showed altered expression of TRs at both the mRNA and protein levels and identified somatic mutations of TRs in several human cancers, including thyroid carcinomas. We have created a knockin mutant mouse by targeti...

Introduction: Anterior pituitary cells are characterised by functional lineages based on the expression pattern of transcription factors. Functional differentiation in the form of pituitary adenomas co-secreting ACTH and growth hormone is very rare. We report a case of multiple cell line pituitary adenoma resulting in acromegaly and ACTH dependent Cushing’s.Case: A 52-year-old woman of Ghanian origin (BMI of 57.5 kg/m2) presented with pro...

Silent corticoptroph adenomas (SCA) are pituitary tumours positive on immunohistochemical staining for ACTH but without clinical evidence of hypercortisolism. They account for 1.1–6% of surgically removed pituitary adenomas. Most tumours are macroadenomas with suprasellar extension present in 87–100% of the cases. They present with mass effects and this is in contrast to Cushing’s disease, which is mostly attributed to microadenomas. Reports suggest that these t...

We report two rare cases of well differentiated thyroid-type carcinoma arising from struma ovarii managed in our institution.Case 1: A 41-year-old female admitted due to abdominal pain and vomiting. Her abdomen was globular with palpable vague mass on lower abdomen. Ultrasound scan revealed 12.5×12.1×8.3 cm heterogenous mass with ascites. Total abdominal hysterectomy with bilateral salphingo-oophorectomy was done and histopathology results reve...

A 27 years old girl presented with weight gain, hirsutism, fatigue, bruising and striae. On examination she was Cushingoid. On initial assessment, 3 out of 4 24 h urinary free cortisol collections were elevated. 0800 h serum cortisol was 280 nmol/l after 1mg dexamethasone given at 2300 h. After formal 48 h low and high dose dexamethasone suppression tests cortisols were 164 and 34 nmol/l respectively. Basal 0800 h ACTH was 33 ng/l. Given the clinical features and the discrepan...