Endocrine Abstracts

Background and Aims: Acromegaly is an insidious disease related to hypersecretion of growth hormone (GH) that leads to several cardiovascular, respiratory, and metabolic comorbidities. The onset of dysmorphic body changes is one of the earliest signs of this condition. The objective of the current work was to describe the clinical manifestations of dysmorphic modifications characterizing Mediterranean patients diagnosed with acromegaly.Patients and Metho...

Addison’s disease (AD) has an estimated prevalence of 126–144 per million among Northern European populations. Average age at diagnosis is 39, but AD may be diagnosed from pre-teens to 80 year olds.AD may occur in isolation or as part of autoimmune polyendocrine syndromes. Previous studies identified significant associations with autoimmune thyroid disease (predominantly hypothyroidism), type 1 diabetes mellitis, vitiligo, vitamin B12 deficienc...

Addison’s disease (AD) has an estimated prevalence of 126–144 per million among Northern European populations. Average age at diagnosis is 39, but AD may be diagnosed from pre-teens to 80 year olds.AD may occur in isolation or as part of autoimmune polyendocrine syndromes. Previous studies identified significant associations with autoimmune thyroid disease (predominantly hypothyroidism), type 1 diabetes mellitis, vitiligo, vitamin B12 deficienc...

Sarcoidosis is a granulomatous multi-systemdisorder of unknown ethology. It has a higher prevalence in Northern Europe and the UK. Neurosarcoidosis is a relatively less common, but serious complication of sarcoidosis. CASE: A 48 year old man presented to the hospital with intermittent fever, and neck pain and stiffness, of six weeksduration. This was associated with excessive tiredness, loss of libido, decreased appetite, and unintentional weight loss of two stone over a perio...

Objectives: The use of levothyroxine (LT4) treatment aiming to improve fertility in euthyroid women with positive thyroid peroxidase antibodies (TPOAb), is not supported by the available evidence, however the extent to which this is applied in clinical practice is unknown. The aim of the study was to document the demographic, work-related characteristics, and therapeutic choices of European physicians in the case of euthyroid infertile women positive for TPOAb.<p class="ab...

A case of a 48-year-old lady who is under follow-up in the clinic at Causeway Hospital, Northern Ireland for hyperthyroidism. She has a medical history of SLE under follow-up Rheumatologists and bronchial asthma. She presented with palpitations, tremors, sweating, and heat intolerance. On examination, the patient appears anxious. Blood pressure was 130/80, PR 140, RR 20, T 37, SPO2 98% A. Her eye examination revealed no lid lag, exophthalmos, and no redness. Examination of the...

In Northern Ireland hypopaks (contains samples for glucose, lactate, hydroxybutyrate, insulin, growth hormone (GH), cortisol, amino acids, organic acids and acylcarnitines) are used to investigate hypoglycaemia in children. We aimed to assess the appropriateness of hypopak requests, to determine their usefulness in diagnosing endocrine and metabolic conditions and to determine if GH is helpful. Data for hypopaks received between 01 April 17 and 31 March 18 was analysed. Hypopa...

Introduction: When hypoglycaemia (blood glucose <2.6 mmol/l) is detected in a child a ‘Hypopak’ is sent, which tests for blood glucose, lactate, hydroxybutyrate, insulin, growth hormone, cortisol, amino acids, acylcarnitines, and urine organic acids. We aimed to determine whether samples were sent appropriately and completely, and whether a diagnosis ensued.Methods: All Hypopak samples received by the laboratory between 1/4/17 and 31/3/18 w...

Gender Dysphoria (GD) is defined as incongruence between gender identity and physical phenotype. This condition exists in different psychological typologies: male-to-female (MtF) and female-to-male (FtM) transsexualism. In most cases the first manifestations can occur even during childhood. The transition project is a long and difficult path that involves a multidisciplinary team including endocrinologists, psychologist and plastic surgeons. Our study aims to describe socio-de...

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...