Endocrine Abstracts

Pregnancy and lactation-associated osteoporosis (PAO) is a rare syndrome of spontaneous fragility fractures, most commonly vertebral, occurring in late pregnancy or lactation. The aetiology and pathogenesis of this osteoporosis are unknown, and early diagnosis and management are essential because of the severity of the morbidity associated with these fractures. The management includes cessation of breastfeeding, use of specific osteoporosis drugs, and adequate analgesia.<p...

A 31-year-old female was referred to Endocrinology clinic for review of her hypergonadotrophic-hypogonadism. She had cleft palate operation at age 3. At age 15y lack of pubertal signs prompted investigations showing XX genotype, FSH:120 IU/L, LH:32 IU/L and low E2. She was started on cyclo-progynova (elsewhere). She has tall stature, span 2.5 cm longer than height, bifid uvula, arachnodactyly with positive ‘wrist sign’, mild scoliosis, pectus excavatum and reduced mu...

Introduction: AIP mutations are responsible for 15-30% of cases of familial isolated pituitary adenomas. The pathophysiology that drives this AIP-related pituitary tumorigenesis is not fully understood. We developed a pituitary-specific Aip knockout (KO) mouse model, which mostly recapitulates the human phenotype.Aims: To performed comparative gene expression analysis of Aip-KO mouse pituitary tumours and AIP mutation positive ...

Introduction: Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to growth hormone (GH, 90% of patients) or prolactin (PRL)-secreting tumours, with negligible number of patients with other pituitary tumour types. Animal models of acromegaly are scarce and Aip models have controversial data. Therefore we have generated two pituitary-specific Aip knockout mouse models to study the consequences of loss of AIP p...

Obesity is a growing global epidemic and current medical therapies have proven inadequate. Endogenous satiety hormones provide an attractive target for the development of drugs which aim to cause effective weight loss with minimal side effects. Two related peptide hormones, glucagon and glucagon-like peptide 1 (GLP-1), are the subject of this investigation. Both have been found to reduce appetite and cause weight loss. Additionally, glucagon increases energy expenditure. It is...

Background: Phaeochromocytomas (PCC) and paragangliomas (PGL) are neuroendocrine tumours that can secrete catecholamines. PCC are found in the adrenals, whereas PGL are found at any level between the skull base to the pelvis. More than 25% of cases are associated with mutations in susceptibility genes such as the SDH subunits. Screening for PCC/PGL crucially depends on detection of biochemical markers such as catecholamines and metanephrines (catecholamine metabolites).<p ...