Endocrine Abstracts

Objective: This study aimed to characterise the relationship between immune checkpoint inhibitors (ICIs), which are commonly used to treat cancer, and thyroid dysfunction in terms of the proportions affected, timing of onset, sequalae and risk factors.Design: Retrospective cohort studyMethods: Patients with normal baseline thyroid function who received an ICI were included. Proport...

Pituitary metastases are reportedly uncommon. Here we report two cases illustrating metastases responding to systemic anticancer therapy (SACT). A 49-year-old woman with metastatic renal cell carcinoma treated with combination ipilimumab and nivolumab immunotherapy was referred for hypocortisolaemia (morning cortisol 74 nmol/l). Biochemical screening revealed an adrenocorticotropic hormone of 16ng/l (0-46), thyroid-stimulating-hormone 0.1mU/l (0.55-4.78), free thyroxine 7 pmol...

Introduction: Early-onset androgen excess commonly presents in pre-pubertal girls as premature adrenarche (PA). Girls with PA have clinical signs of androgen excess, such as pubic/axillary hair, body odour, greasy hair, and moderately elevated adrenal androgens before their 8th birthday. There is conflicting evidence if girls with PA are at higher risk to have or develop metabolic dysfunction, or progress to developing Polycystic Ovary Syndrome (PCOS), the mos...

Introduction: FKBP prolyl isomerase 4, encoded by the gene FKBP4, is a member of the FK506-binding protein family and is presumed to be a regulator of the androgen receptor (AR) pathway. Mutations in FKBP4 have been proposed to cause Androgen Insensitivity Syndrome (AIS), with only one case reported in the literature so far.Aim: To report the clinical, biochemical and genetic findings in an infant with 46, XY DSD a homoz...

Background: Individuals with diabetes are at higher risk for developing arterial disorders. The toe-brachial index (TBI) is associated with peripheral vascular disease, and aortic pulse-wave velocity (aPWV) is currently the gold standard for assessing arterial stiffness. High concentrations of plasma arginine vasopressin (AVP) preferentially stimulate V1a receptors, which affect the vascular bed and may contribute to cardiovascular (CV) complications. Copeptin, a more stable p...

Background: Androgen excess frequently manifests in pre-pubertal children as premature adrenarche (PA). PA is characterised by the development of pubic and axillary hair, adult-type body odour in girls <8yrs and in boys <9yrs. PA may be a forerunner condition of polycystic ovary syndrome (PCOS), a complex metabolic disorder characterised by androgen excess. It is well established that women with PCOS have high risk of insulin resistance and frequently develop type 2 di...

De-escalation of thyroid cancer treatment is crucial to prevent over-treatment of indolent disease. However, it also underscores the importance of identifying potential clinically aggressive cases that require completion lobectomy and adjuvant radioiodine therapy. TERT promoter mutations are molecular events closely associated to high-risk thyroid tumors with poor outcome, and may serve as markers for cases at risk of dissemination. In various international guidelines...

Approximately 15-20% of phaeochromocytomas and paragangliomas (PPGL) are metastatic. Metastatic spinal cord compression (MSCC) has been reported infrequently. We present three cases of MSCC secondary to metastatic PPGLs. MSCC can occur in patients with PPGLs and should be considered in patients with either spinal symptoms or spinal metastases on imaging. Our series has shown radiotherapy followed by therapeutic MIBG to be effective in treating spinal metastases. Each case shou...

Context: Turner syndrome (TS) is associated with short stature, delayed puberty, primary ovarian insufficiency, infertility, and other features. The majority of girls with TS require pubertal induction and life-long oestrogen replacement therapy. There is paucity of data in adult TS on the efficacy of pubertal induction, such as breast satisfaction. Patient-related outcome measures (PROMs) assess the quality of care and treatment from the patient’s perspective. We have em...

Introduction: Immunotherapy has transformed the outcomes of various cancers. Monoclonal antibodies against cytotoxic T lymphocyte antigen 4 (CTLA4), programmed cell death 1 (PD1) and its ligand, PDL1 target mainly T cells, unleashing the immune system against tumour cells. Immune checkpoint inhibitor therapy results in a variety of immune related adverse events, including various endocrinopathies. Thyroid disorders, pituitary disorders are relatively more common compared to pr...