Endocrine Abstracts

Pituitary gigantism occurs due to hypersecretion of GH and insulin-like growth factor-1 (IGF-1) in children and adolescents before the closure of epiphyseal growth plates. This hormonal disorder is usually due to an adenoma or hyperplasia of the anterior pituitary gland and like other tumoral conditions in children often has a genetic background. Recently we demonstrated that a genetic predisposition is present in just under half of cases of pituitary gigantism. The best recog...

In 1993 a 33-year old female was diagnosed biochemically with both Conn's and Cushing's syndrome. A large right-sided adrenal mass was found on CT scan of the abdomen and a right-sided adrenalectomy was performed. Histology reported a benign, 7 centimetre adrenocortical tumour, secreting both cortisol and aldosterone. Annual assessments of urinary cortisol and plasma aldosterone/renin ratios remained normal until September 2002, when she noticed a weight gain of 6 kilograms an...

A 29 year old lady presented to an outside hospital with 1 year’s history of episodes of confusion in the mornings. The patient’s partner had noticed that 2–3 times a week she awoke with episodes of confusion, minimal communication, stereotyped lip smacking and winking lasting up to 20 min. She had one nocturnal tonic-clonic seizure abroad, requiring A+E attendance. She was then seen by a neurologist, had a normal sleep deprived EEG and was diagnosed with focal ...

Poor hormonal and tumour responses to somatostatin analogues (SSA) in acromegaly can occur although the aetiology is often unclear. Two genetic syndromes are associated with relative SSA resistance: acromegaly due to AIP mutations (AIPmut) and the newly described X-linked acrogigantism (X-LAG) syndrome due to chromosome Xq26.3 microduplications. We studied whether SSA resistance in these conditions was related to somatostatin receptor (SSTR) levels in tumour tissues. We studie...

Familial hypocalciuric hypercalcaemia (FHH) is a characteristically asymptomatic condition that is caused principally by calcium sensing receptor gene (CASR) mutations and less frequently by GNA11 or AP2S1 mutations. We report a case of recurrent symptomatic pancreatitis in an FHH patient. The 17-year-old patient was hospitalized with abdominal pain and raised pancreatic enzymes due to acute pancreatitis. The only predisposing factor on investigation was a very elevated serum ...

Germline mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) predispose to pituitary adenomas in young patients, often presenting as familial isolated pituitary adenoma (FIPA) kindreds. Pituitary adenomas in patients with AIP mutations (AIPmut) are usually somatotropinomas, which are more aggressive and have poorer responses to somatostatin analogues than their non-mutated counterparts. Given the rarity of this condition, the molecular pathogenesis of the...

Introduction: Generously supported by IPSEN)-->Craniopharyngiomas (CP) are benign tumors that arise from remnants of the Rathke’s pouch. Classically, they are classified as cystic or calcified tumors. The presence of hormonal receptors in CP has been reported in in vitro studies but only eight cases growing during pregnancy have been published in literature.Case report: We report a 32-year-old wom...

Introduction: It has been estimated that 15–20% of FIPA families harbor an AIP gene mutation (AIPmut). To our knowledge ~50 sequence variants -pathological and otherwise- have been described to date. We report a new FIPA family with an extensive genealogy, in which 4 members have pituitary adenomas in the setting of a novel AIPmut.Patients and methods: The index patient is a 37-year-old man, who presented with childhood onset of somatotropinoma and ...

Hyperthyroidism in pregnancy is associated with increased foetal and maternal morbidity. Hyperthyroidism occurs in 0.2–0.6% of pregnancies. This suggests that based on 23,000 deliveries in the 3 major Dublin maternity hospitals that 40–60 cases per year would be expected to be at risk of a poor outcome from hyperthyroidism.To clarify those factors associated with poor outcome in hyperthyroidism in pregnancy we undertook an audit of 53 cases of ...

Section 1: Case history: A case of a 23-year-old lady with a known history of Perthes disease, pulmonary stenosis, bronchial asthma, primary hypothyroidism on levothyroxine and newly diagnosed hypertension on amlodipine, who presented to Accident and Emergency with symptoms of generalised lethargy, weakness of the upper and lower limbs, rapid onset of weight gain for 6 months, increasing abdominal girth and recurrent genital thrush.Section 2: Investigati...