Endocrine Abstracts

Microsomal glucose-6-phosphatase (G6Pase) and glucose-6-phosphate transporter (G6PT) are key enzymes in regulation of blood glucose concentration. Deficiency of G6Pase gives rise to glycogen storage disease type Ia (GSDIa) whilst mutations in G6PT cause GSDIb. Both are characterized by growth retardation, hypoglycemia, hepatomegaly, nephromegaly. G6Pase shares its substrate (G6P) with hexose-6-phosphate-dehydrogenase (H6PDH), an ER enzyme functionally coupled with, and which c...

Despite the relative absence of iodised salt (only ∼4% of table salt is iodised), Ireland has not been regarded as a region with a high prevalence of iodine deficiency disorders. However a recent and worrying decline in urinary iodine (UI) excretion, most marked in the summer months, was observed with median UI of 61–83 ug/L between 1988 and 1999; falling to 45.0 ug/L in 2004 and to 42.5 ug/L in 2005 with UI values <50 ug/L (64.5% and 73.9% respectively in summe...

Background CPHD is characterized by GH and at least one other pituitary hormone deficiency. Mutations in genes expressed in the developing head, hypothalamus, and/or pituitary cause CPHD. To date around 30 genes have been identified to be related to CPHD, however 85% of the cases remain with unknown molecular aetiology.Patient and methodsA newborn boy (46, XY) delivered by CS due to IUGR with a birthweight of...

IntroductionPrediabetes and type 2 diabetes prevalence in children and teenagers has been rising lately, according to obesity increase in this population. Diabetes is the first cause of kidney failure in this individuals. These clinical entities are associated with hypertension and dyslipidemia, leading to an increased risk for cardiovascular disease. In this case, as a result of the presence of a diabetic complication, the differential diagnosis of the ...

Background: Turner’s syndrome (TS) affects 25-50 per 100,000 females. Germinal cell tumour risk is described for TS with Y-chromosome presence (12%) and gonadal dysgenesis (15-35%) but other cancer risk is less well described. Neuroblastoma accounts for 6% of UK childhood cancer registrations, is the commonest cancer diagnosed in the first year of life and the most common extra-cranial solid tumour in childhood. It carries a UK incidence of 10.9 cases/million children. Pr...

Background: Radioactive iodine therapy (RAI) is established as a safe and effective treatment for adults with Grave’s disease. As thyrotoxicosis in children is rare, it is difficult to obtain high quality evidence about the safety and efficacy of RAI. We present data from our centre between 2007 and 2017.Methods: 20 paediatric patients with hyperthyroidism (16F), median age 15.7 years (range 10.8–19.3) had RAI in our centre either one or two do...

Introduction: Fibrous dysplasia (FD)/McCune Albright Syndrome (MAS) is a rare disorder affecting bone and hormonal glands. In FDMAS patients, autonomous GH hypersecretion (GH+) is the most common endocrinopathy after Precocious Puberty and has a great impact on the morbidity and complication rate in patients with craniofacial fibrous dysplasia. However clinical and biochemical features of GH over secretion can be subtle and awareness is warranted. We aimed to explore the GH/IG...

Introduction: Myxedematous coma is a rare endocrine emergency that settles in the absence of appropriate treatment for hypothyroidism for a long period. The severe and chronic reduction of serum thyroid hormones culminates in the insufficiency of compensatory mechanisms that maintain the physiological homeostasis of the organism. The clinical condition is severe, commonly associated with hypoxemia, hypercapnia, hypothermia, reduced cardiac output, and altered mental status.</p...

Background: Sympathetic pheochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors associated with excess catecholamine production. Routine biochemical and imaging surveillance to monitor for recurrence and metastasis is recommended. However, there is limited data describing optimal surveillance approaches and post-operative biochemical thresholds for detecting recurrences or metastases. This study sought to correlate biochemical and imaging surveillance with ...

Background: In patients with Bardet-Biedl syndrome (BBS), signaling impairments in the melanocortin-4 receptor (MC4R) pathway lead to hyperphagia and severe obesity, which negatively impact quality of life (QOL). We evaluated the impact of setmelanotide, an MC4R agonist, on age-appropriate weight-related parameters, hunger, and QOL in a Phase 3 trial of patients with BBS to further characterize clinical benefit in this patient population.Methods: Patient...