Endocrine Abstracts

Introduction: Prolactinoma and macroprolactin are important differentials in the diagnosis of hyperprolactinaemia. We present the case history of a patient with hyperprolactinaemia due to an unusual coincidence of macroprolactin and a non-enhancing pituitary lesion. Case history: A previously well female police officer aged 29, was referred to the endocrine clinic with a history of amenorrhoea and mastalgia for 3 years. She also complained of nausea, dizziness, weight gain, th...

Case history: We present a case of a 34-year-old male diagnosed with bilateral gynecomastia referred to the endocrine clinic. Notable background of left cryptorchidism with orchidopexy at the age of 15, delayed puberty, chronic testicular pain and atopic dermatitis. On examination he had short stature, hypertelorism, low set ears, broad short hands, brachydactyly and clinodactyly of 5th fingers. There was no evidence of cleft lip/palate, teeth abnormalities or inguinal/abdomin...

A 32-year-old gentleman, of South-Asian origin was admitted with a 4-week history of abdominal pain, nausea and vomiting. He also had history of polyuria, polydipsia and weight loss over 6 weeks. Just prior to these symptoms he had been started on colecalciferol 20 000 units weekly by his GP for Vitamin D deficiency (25(OH) Vitamin D – 10.3 nmol/l (48–145)). On admission he had adjusted calcium of 4.52 mmol/l and acute kidney injury with his eGFR being 38 ml/min per ...

A 37-year-old gentleman was admitted following a GP referral for asymptomatic hypercalcaemia. His adjusted calcium was raised at 3.27 mmol/l while phosphate level was normal. The only past medical history was borderline hypertension which was being monitored in primary care. His PTH level was suppressed at 0.43 pmol/l l (1.1–5.5) while 25(OH) Vitamin D was normal at 71.6 nmol/l (48–145). Twenty-four hours urinary metadrenalines were normal. His full blood counts were...

Fasting hypoglycaemia may occasionally be caused by non islet cell tumours (NICTH). Mostly they are large retroperitoneal, intra-abdominal or intrathoracic tumours that are slow growing though malignant. We report a case of recurrent hypoglycaemia associated with metastatic ovarian carcinoma.About 66-year-old lady was admitted with increasing abdominal distension and shortness of breath over 6 weeks duration. There was no significant past medical history...

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 <s...

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

Metabolic dysfunction in skeletal muscle disturbs both the critical vascular network and fundamental muscle fibre architecture. However, the molecular drivers during metabolic stress responsible for transmitting these events remain poorly defined. To reveal these we mapped changes in the spatial proteome occurring as a result of impaired metabolic health. We exposed male and female mice (C57/BL6J) to high fat diets and conducted digital spatial profiling (NanoString GEOMX) on ...

Introduction: Graves’ disease (GD) has a well-known association with thymic hyperplasia caused by TSHR expression in thymus and regresses by approximately 33-90% with treatment. Splenomegaly due to lymphoid hyperplasia has also been linked with GD in about 10% patients. Cerebral venous sinus thrombosis (CVST) linked with GD is documented in literature but is more common occurrence in solid cancers.Case presentation: We report a case of 32-year man a...

Case history: PD is a 57-year-old female teacher who presented to her GP in October 2017 with lethargy, dyspnoea and anaemia. Bone marrow biopsy followed by a CT scan of her chest and abdomen confirmed lobular breast cancer with peritoneal and bone metastases (ER+/HER2−). The patient also had an MRI scan of her head to assess for intracranial metastatic disease which was negative at the start of December 2017. She was commenced on letrozole, palbociclib and denosumab. A ...