Endocrine Abstracts

Case history: A 32 year old male diagnosed with McCune-Albright syndrome aged 18, presented with a painful left knee and difficulty in walking, limiting his usual activities. He was diagnosed with Acromegaly (IGF-1 451 ng/ml, mean GH 2.71 ug/L) aged 26 years and had multiple sites of fibrous dysplasia, causing bone pain. On examination he had tall stature and features of acromegaly with normal visual fields and palpable masses behind his left knee and upper thigh.<p class=...

We present the case of a 19-year old male who presented with a generalized tonic clonic seizure associated with visual loss. Examination revealed severe visual field defects and arrested pubertal development. Laboratory evaluation revealed a very elevated prolactin of 298 410 mU/l, hypogonadotrophic hypogonadism, secondary adrenal insufficiency, and secondary hypothyroidism. He was also found to have thrombocytosis due to JAK 2 essential thrombocythaemia. Pituitary MRI reveale...

We present the case of a 19-year old male who presented with a generalized tonic clonic seizure associated with visual loss. Examination revealed severe visual field defects and arrested pubertal development. Laboratory evaluation revealed a very elevated prolactin of 298 410 mU/l, hypogonadotrophic hypogonadism, secondary adrenal insufficiency, and secondary hypothyroidism. He was also found to have thrombocytosis due to JAK 2 essential thrombocythaemia. Pituitary MRI reveale...

Case history: A 69-year-old Caucasian male presented with persistent abdominal pain and was found to have a large right adrenal mass on CT. Interestingly his family history revealed that his daughter had been treated for Cushing’s disease. He was normotensive and denied classical symptoms of catecholamine excess. He had exertional dyspnoea in keeping with COPD. Subsequent tests were consistent with a secretory phaeochromocytoma and urine normetadrenaline 85,671 nmol/day (...

Case history: A 17 year old previously healthy male presented to his local emergency department with a generalised tonic seizure associated with severe hypertension (systolic blood pressure 240 mmHg) and tachycardia. He was intubated and admitted to the Intensive Care Unit. Antimicrobials to cover meningoencephalitis were commenced and his hypertension was managed with intravenous labetalol. He was extubated the following day. He had experienced headaches on a monthly basis fo...

Case history: We present the case of a 72-year-old female who was referred to the endocrinology service following the identification of a pathogenic germline mutation in the SDHA gene (c.91C>T, p.Arg32*) as part of a genetic panel for hypertrophic cardiomyopathy. There was no personal or family history of phaeochromocytoma or paraganglioma (PPGL), gastrointestinal stromal tumours or pituitary adenoma.Investigations: Our patient was reviewed ...

Case history: A 26 year-old lady was admitted directly from the endocrine clinic with severe hypertension (BP 180/130 mmHg) and bilateral papilloedema. Six weeks prior to admission she had undergone resection of a 24 cm right upper quadrant lesion that was pre-operatively felt to be of hepatic origin. She was normotensive pre-operatively. Histology confirmed this to be an adrenal phaeochromocytoma with deficient SDH immunostaining. Pre-operative biochemical assessment had not ...

Case history: A 63-year-old female presented with bi-temporal hemianopia. Pituitary MRI demonstrated a macroadenoma with suprasellar extension. Her medical history included a glomus tumour of the right ear treated with external beam radiotherapy (EBRT) 25 years previously. She had no evidence of pituitary hormone abnormality and had normal urinary metanephrines levels. She underwent transsphenoidal surgery with total resection and full recovery of her visual fields. Immunohist...

Introduction: Germline mutations in succinate dehydrogenase subunit B (SDHB) are one of the commonest findings in familial paraganglioma (PGL) syndromes and account for one quarter of PGLs associated with germline mutations. Although the penetrance is low, the malignancy conversion is high; up to 30%. With the increasing availability of genetic testing and the identification of ‘asymptomatic carriers’ of the SDHB gene mutation, it is therefore impor...