Endocrine Abstracts

Background: Hypothalamic injury and impaired melanocortin-4 receptor (MC4R) pathway signaling, often a result of surgery or radiation for a benign tumor, may lead to hypothalamic obesity (HO). After injury, sudden weight gain and appetite changes unresponsive to existing therapies develop. Setmelanotide, an MC4R agonist, is approved for chronic weight management in patients with certain MC4R pathway–associated diseases. We report interim results of a Phase 2 study of setm...

Cancers arise through accumulation of mutations that compromise control of cell proliferation, differentiation, adhesion, invasion, angiogenesis and apoptosis. To identify targets for effective therapy, it is important to determine which lesions are needed for maintenance of the tumor. We have constructed genetically manipulated transgenic and knock-in mice to directly explore the roles of activated Myc and inactivated p53 in the genesis, progression and maintenance of neoplas...

After the menopausal transition, the ovaries cease to make oestrogens, yet the incidence of breast cancer increases with aging and the majority of these tumours are ER positive. So, where is the oestrogen driving this tumour development coming from? Several extra-gonadal sites synthesize oestrogens from circulating C19 steroids, such as bone, brain, and adipose. The largest of these depots is the adipose tissue, and increased BMI is associated with increased breast cancer risk...

Introduction: We describe a novel case of familial congenital aniridia in a Caucasian woman with associated insulin requiring diabetes mellitus. This human combination has been described in Asian families in association with a heterozygous Paired Box 6 (PAX6) mutation (1) with subsequent evidence supporting that the mutation in this transcription factor causes decreased Proconvertase 1/3 function in the pancreas and a high proinsulin to insulin ratio (2). Our case does not hav...

Introduction: Hypercalcemia has a broad differential, including primary hyperparathyroidism, non-parathyroid hormone-mediated hypercalcemia, including humoral hypercalcemia of malignancy, or medication mediated. We report a case of severe hypercalcemia attributable to milk-alkali syndrome due to excessive calcium carbonate use.Case: A 71 year-old female with a history of hypertension presented after a fall without loss of consciousness. She endorsed epis...

Background: Polycystic ovary syndrome (PCOS) affects 5–10% of women in the reproductive age group. It is associated with insulin resistance and hyperinsulinemia which is further aggravated during pregnancy. The use of metformin in PCOS is increasingly accepted but its therapeutic use during pregnancy is still a debatable issue. There are few local studies on the use of metformin among PCOS patients and data are lacking among Filipinos.Objectives: To...

Introduction: Neuroendocrine tumours (NETs) may change grade and clinical behaviour substantially over time, requiring shifts in management strategy.Case Presentation: A 53-year-old lady presented with abdominal bloating and diarrhoea. Diagnostic MRCP and CT-CAP confirmed metastatic cancer, with bilobar liver metastases and a sclerotic lesion in the right ilium. Her disease was 68Ga-DOTATATE-avid. Rectal biopsy confirmed...

Craniopharyngioma is a rare and benign type of tumour derived from squamous cell nests of the primitive Rathke’s pouch of the pituitary gland. Commonly present in childhood, it is also found in adults in their 50s and 60s. People may initially present with vision disturbance, usually bitemporal inferior quadrantanopia, progressing to bitemporal hemianopsia as the tumour grows and compresses on the optic chiasm. Although a slow-growing tumour, both the disorder and therapy...

Premature ovarian failure (POF) is defined as cessation of menstruation before the expected age of menopause. The disorder is considerable heterogeneous with a wide spectrum of causes- genetic, autoimmune, metabolic, infectious, and iatrogenic. However, etiology remains to be elucidated in most cases.Chromosomal abnormalities have long been recognized as frequent causes of POF. However, few large cohorts have been studied. Ethnic background is usually no...

Skeletal muscle is the principal tissue responsible for insulin-stimulated glucose disposal and is thus the major site of peripheral insulin resistance. Urocortin 2 (Ucn-2), a corticotropin releasing factor (CRF) family member and the type 2 CRF receptor (CRFR2) are highly expressed in skeletal muscle. To determine the physiological role of Ucn-2, we generated mice deficient in this peptide. Using glucose and insulin tolerance tests and hyperinsulinemic euglycemic glucose clam...