Endocrine Abstracts

Alkaline phosphatase is a widely-ordered test from the clinical laboratory. This brief clinical overview will cover the considerations an endocrinologist should make when assessing a patient referred with an incidental finding of either low or elevated alkaline phosphatase. Some discussion from a laboratory perspective will be included, with a clinic visit and the many caveats for interpretation of alkaline phosphatase in mind, as well as the patient f...

The experience of patients with craniopharyngioma is not benign; these patients are subject to increased mortality compared to age- and gender-matched peers and increased morbidity from hypopituitarism, obesity, thirst and electrolyte disorders and sleep disturbance. This talk will explore the challenges specific to management of this patient cohort, how they differ from other patients with tumoural hypopituitarism, strategies to minimize hypothalamic damage and how to assess ...

One of the fundamental mysteries of biology has been the genetic control of puberty in the human. High degrees of species specificity in the control of GnRH secretion, the central actor in sexual maturation, and the rarity of a discrete period of childhood quiescence independent of suckling in most animals have compounded this problem.The clinical condition of Idiopathic Hypogonadotropic Hypogonadism, either with normosmia (nIHH)) or with anosmia (Kallma...

Background: Hip fractures are associated with high morbidity and mortality rates amongst older adults. The Irish Hip Fracture Database Standard 5 requires that all patients with a hip fracture have a bone health assessment completed. The majority are prescribed bone protection therapy to reduce further fractures. We sought to analyse the compliance and receipt of bone protection in patients presenting for DXA scan post hip fracture.Methods: We retrospect...

Familial isolated growth hormone deficiency is exceedingly rare. We present two siblings of non-consanguineous parents with this syndrome and describe their response to growth hormone therapy. We have also carried out a mutational analysis of their GH1 and GHRH-R genes.A mutation scan of the entire coding region and flanking intronic sequences of GH-1 and GHRH-R was undertaken in both index cases and parents. GH1 and GHRH-R mu...

Objective: Our aim was to identify and treat sleep disorders in asymptomatic patients with craniopharyngioma and to identify co-existing respiratory disease.Methods: 5 patients (1 male) with a diagnosis of craniopharyngioma, were identified from the local pituitary database and admitted for polysomnography (Alice 4, Respironics), as part of a study of hypothalamic disease in craniopharyngioma. Sleep disturbance was defined as an apnoea index (AHI) of &#6...

Background: While the classic presentation of pheochromocytoma includes a triad of episodic headaches (90%), diaphoresis (60–70%), and palpitations (70%), literature has suggested 10% to 17% of patients with pheochromocytoma are either asymptomatic or mildly symptomatic; thus, highlighting the importance of appropriate endocrine work up of adrenal incidentalomas.Case: We report a 37-year-old male with a long-standing history of nocturia and dysuria,...

MEN1 is an autosomal dominant endocrine tumour syndrome, caused by inactivating mutations of the MEN1 tumour suppressor gene at 11q13 locus and characterised by occurrence of hyperparathyroidism, pancreatic tumours and pituitary adenomas. We describe a family with MEN1 syndrome. The index case was a 71-year-old man, referred to Endocrinology clinic in Midland Regional Hospital Portlaoise for hypercalcemia (calcium 3 mmol/l, phosphate 0.5 mmol/l, PTH 350 pg/ml, creatin...

Introduction: Some patients complain of excessive daytime somnolence following pituitary surgery.Aim: To investigate the presence of obstructive sleep apnoea (OSA) following surgery for non functioning pituitary adenomas (NFPA).Design and methods: We assessed the prevalence of OSA in 16 routinely selected patients following surgery for NFPA and 13 obese controls attending a tertiary referral centre, by means of the Epworth Sleepine...

Introduction: Multiple endocrine neoplasia type 2 (MEN2) comprise a group of heritable disorders that result from mutations in the RET proto-oncogene on chromosome 10. MEN2 is sub classified into MEN2A and MEN2B; these syndromes are characterised by the development of tumours at multiple sites. MEN2A is characterised by medullary thyroid cancer, phaeochromocytoma, and primary parathyroid hyperplasia.Description/case presentation: The index case is a 49 y...