Endocrine Abstracts

Hypoparathyroidism may occur as: a hereditary syndromic disorder (e.g. Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED), Hypoparathyroidism Sensorineural Deafness and Renal Disease (HDR), Autosomal Dominant Hypoparathyroidism type 1 (ADH1), or ADH type 2 (ADH2), which are due to mutations of autoimmune regulator (AIRE), GATA binding protein 3 (GATA3), calcium-sensing receptor (CASR) and G-protein sub...

An endocrine specialist pharmacist has been running an adrenal incidentaloma clinic since September 2020. As of Jun-22 258 patients have been seen in clinic and managed using a local protocol. Adrenal incidentaloma patient referrals are screened as per current guidelines on receipt; those measuring <1 cm are declined, suspected adrenocortical carcinomas are seen by a consultant and referred elsewhere if needed. All others are seen by the endocrine pharmacist within 4 weeks...

Introduction: Increasing evidence is emerging that demonstrates the increased prothrombotic risk associated with DKA.1 We present the case of a child who developed multiple complications which we believe can be explained by his hypercoaguable state.Case history: A 14-month-old male was admitted in DKA at first diabetic presentation, complicated by cardiovascular shock. Initial blood tests showed blood glucose 80 mmol/l, blood ketones 5.9 mmol/...

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...

Case history: A 52 year-old lady was seen for further assessment of primary hyperparathyroidism (PHPT). She complained of intermittent symptoms of bloating but was otherwise asymptomatic. She was menopausal on hormone replacement therapy (HRT) and had started lithium for bipolar disorder 4 years ago. She had no known history of nephrolithiasis and no history of fractures. Her past medical history included Hodgkin’s lymphoma treated with chemotherapy 14 years ago, bipolar ...

Annona squamosa has been shown to have anti-diabetic properties, although the underlying mechanisms are not fully known. In the present study, ethanol extract A. squamosa (EEAS) leaf were investigated in vitro and in vivo, to elucidate the mechanism underlying anti-diabetic actions. EEAS significantly (P<0.05–0•001) increased insulin release 2.2-5.5-folds at 5.6 mM/16.7 mM glucose at concentrations between 8-5000µg/ml from BRIN-BD1...

Mutational analysis of the calcium-sensing receptor (CaSR) is frequently undertaken to confirm a diagnosis of familial hypocalciuric hypercalcaemia (FHH) and autosomal dominant hypocalcaemic hypercalciuria (ADHH). However, functional characterization of these CaSR mutations to demonstrate loss-of-function for FHH mutations and gain-of-function for ADHH mutations is infrequently performed. We demonstrate the importance of pursuing in vitro studies that investigate the functiona...

We report a 36 year old woman of African origin with a background of HIV and previous AIDS defining pulmonary tuberculosis. The patient has been well on highly active anti-retroviral therapy (HAART) since May 2000. She presented in March 2001 with a four weeks history of fatigue, weight loss, palpitations, polyuria and weakness. Her mother had type 2 diabetes. There is no family history of thyroid disease. Examination showed a thyrotoxic state, a smooth diffuse goitre and prox...

The onset of lactation after childbirth is a key determinant of successful breastfeeding. Copious milk secretion occurs by postpartum day 4 and is mediated by a decline in serum progesterone and high serum prolactin. However, the threshold prolactin concentration required is unclear. It is also unknown if changes in mammary prolactin sensitivity contribute to the initiation of lactation. To investigate this, we recruited 52 healthy pregnant women aged 26-42 years following inf...

Background: Pituitary metastases are a rare occurrence, accounting for just 0.4% of intracranial metastatic tumours and are most often associated with breast and lung malignancies. The vast majority of lesions are asymptomatic and due to the predilection of metastasis to the posterior lobe of the pituitary gland, clinical presentation with anterior pituitary insufficiency is uncommon and rarely reported in literature.Case summary: A 51-year old male with...