hrp0086fc5.1 | Management of Disorders of Insulin Secretion | ESPE2016

The Anti-diabetic Drug, Metformin, Suppresses Adipogenesis through both AMP-activated Protein Kinase (AMPK)-dependent and AMPK-independent Mechanisms

Chen Suet Ching , Brooks Rebecca , Houskeeper Jessica , Bremner Shaun K , Dunlop Julia , Viollet Benoit , Salt Ian P , Ahmed S Faisal , Yarwood Stephen J

Background and aim: Metformin is widely used in Type 2 diabetes, with increasing reports of a potential bone protective role. We investigated the role of AMPK in mediating the effects of metformin on mesenchymal stem cell (MSC) differentiation to either osteoblasts or adipocytes.Methods: Confluent mouse MSCs (C3H10T1/2), wild type (WT) and AMPK knockout (KO) mouse embryo fibroblasts (MEFs) were treated with metformin(500 μM), AMPK-activator A769662(...

hrp0082p2-d3-478 | Hypoglycaemia | ESPE2014

Case Report: a Rare Cause of Hypoglycemia in a Neonate

Salemi Parissa , Farber Jessica Strohm

Background: Hypoglycemia in the neonate occurs in approximately one to five per 1000 live births. Common causes may be due to sepsis, IUGR or LGA. Rarer causes are congenital hyperinsulinism, panhypopituitarism, GHD, cortisol deficiency, insulinoma, insulin-receptor stimulating antibodies, BWS, and congenital disorders of glycosylation. We present a case of hypoglycemia in a neonate secondary to intraductal papillary mucinous neoplasm of the pancreas (IPMN). IPMN was first rep...

hrp0092p1-177 | Bone, Growth Plate and Mineral Metabolism (1) | ESPE2019

Severe Hypocalcaemia in Propionic Acidaemia caused by Parathyroid Hormone Resistance and treated with Alfacalcidol

Sandy Jessica , Champion Michael , Cheung Moira

Introduction: Propionic Acidaemia (PA), an organic acidaemia, is characterized by episodes of decompensation with severe metabolic acidosis and hyperammonaemia. PA is associated with low bone mineral density and osteoporosis. Hypocalcaemia is known to occur in 35-65% of decompensations, however the underlying pathophysiology remains unclear. PTH resistance has previously only been described in one case of hypocalcaemia in PA and we report the first use of ...

hrp0089p3-p307 | Pituitary, Neuroendocrinology and Puberty P3 | ESPE2018

Premature Adrenarche and Pseudohypoparathyroidism – Mechanistically Linked or Coincidence?

Odone Jessica , Yadlapalli Kumar , Burren Christine

Aims: To describe a case of premature adrenarche with pseudohypoparathyroidism, an as yet unreported combination.Case: An otherwise well 8 year old girl presented to a Paediatric Endocrine Clinic with early pubic hair development suggestive of Premature Adrenarche. Blood tests revealed hypocalcaemia, elevated phosphate and highly elevated parathyroid hormone (PTH) level, giving a biochemical diagnosis of pseudohypoparathyroidism. She had normal stature (...

hrp0092p3-327 | Late Breaking Abstracts | ESPE2019

Severe Hypercalcaemia After Years on The Ketogenic Diet: A Novel Case Report

Sandy Jessica , Cocca Alessandra , Cheung Moira , Lumsden Daniel , Sakka Sophia

Introduction: An association between the ketogenic diet (KD) and hypercalcaemia has been suggested in one case series of three children1, where hypercalcaemia occurred within 12 months of starting KD. We describe a case where severe hypercalcaemia occurs after four years on KD.Case: A 5.5-year-old boy is referred for hypercalcaemia in context of early sepsis and a background of Dynamin-1 gene mutation causing ...

hrp0089p1-p205 | Pituitary, Neuroendocrinology and Puberty P1 | ESPE2018

A Paternally Inherited Familial Precocious Puberty Caused by a Novel MKRN3 Frameshift Variant

Odone Jessica , Nicholls Rachel , Yadlapalli Kumar , Crowne Elizabeth , Turnpenny Richard

Background: Precocious puberty is defined as breast development before 8 years in girls and gonad development before 9 years in boys. Central precocious puberty (CPP) results from early activation of the hypothalamic-gonadal axis. One third of idiopathic CPP is reported to be familial. Genetic mutations were initially described in kiss-peptin-1 (KISS1) and its receptor (KISS1R). More recently, Abreu et al identified heterogeneous mutations in the makorin RING finger 3 (MKRN3) ...

hrp0086p2-p937 | Thyroid P2 | ESPE2016

Starting Treatment in Congenital Hypothyroidism with Normal FT4 Levels and Thyroid Gland in situ Detected at Neonatal Screening

Paone Laura , Gubinelli Jessica , Scire Giuseppe , Ubertini Graziamaria , Cappa Marco

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

hrp0094p1-96 | Thyroid A | ESPE2021

Thyroid storm and transient bulbar myopathy in a 22-month-old girl with Graves’ Disease

Sandy Jessica , Brungs Rosemary , Neville Kristen , Lawson John ,

22-month girl presented with 3 days of cough and fevers, 2 weeks of rhinorrhoea and frequent “clearing of throat” and 6 months of diaphoresis and growth spurt. On examination, she was flushed and diaphoretic with a large goitre. She had a low grade fever (T=37.9) with signs of cardiac compromise (bounding pulse sinus tachycardia [HR=200bpm]. She was hypertensive [BP=145/90mmHg] and tachypnoeic [RR=36/min] with respiratory distress and right-sided crepitations. She ha...

hrp0092p1-95 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

The role of Physical Activity on Postural Stability and Fitness Characteristics in Pediatric Patients with GH Deficiency

Brusa Jessica , Maggio Maria Cristina , Bellafiore Marianna , Corsello Giovanni , Palma Antonio , Messina Giuseppe

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and mus...

hrp0092p1-392 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Do Children and Adolescents with Idiopathic short Stature show Postural Alterations? Possible Influence of SHOX Haploinsufficiency in a Pilot Study

Maggio Maria Cristina , Messina Giuseppe , Brusa Jessica , Bellafiore Marianna , Corsello Giovanni , Palma Antonio

Purpose: Needs in terms of quality of life (QoL), consisting of physical, emotional and social domains, represent a hot spot in idiopathic short stature (ISS). Between ISS, it is estimated that 12% can have SHOX deficiency. Furthermore, SHOX deficiency can affect posture and GH treatment ameliorate their QoL. Although scientific research has investigated many fields of the physical domain, very few studies highlighted how this pathological condition may af...