hrp0086fc1.3 | Adrenals | ESPE2016

Steroidogenesis in the Human Fetal Adrenals at the End of the First Trimester

Savchuk Iuliia , Morvan M.L. , Soeborg T. , Antignac J.P. , Danielsson K. Gemzell , Bizec B. Le , Soder O. , Svechnikov K.

Background: Steroid hormones produced by the human fetal adrenals (HFA) are suggested to regulate intrauterine homeostasis and the maturation of certain fetal organs necessary for extrauterine life. Appropriate development and hormonal function of the HFA therefore are critical for normal fetal maturation and survival. Little is known about the possible relationship between the expression of steroidogenic enzymes and corresponding transcription factors in the HFA in vivo</...

hrp0082p3-d3-686 | Bone (2) | ESPE2014

Bone Health in a Cohort of Irish Spinal Muscular Atrophy Patients

Mc Sweeney Niamh , Mc Kenna Malachi , Webb David , van der Kamp Susan , Kilbane Mark , O' Keane Myra , Lynch Bryan

Background: Spinal Muscular Atrophy (SMA) is characterised by progressive muscle weakness, resulting from loss of anterior horn cells in the spinal cord and the brain stem nuclei. Survival motor neuron levels (SMN) are reduced due to mutations in the SMN1 gene. SMN function has been implicated in poor bone health. SMA is classified according to age of onset and clinical course accordingly: type 0 (prenatal), type 1 (onset <6 months, severe, never sit unsupported), type 2 (...

hrp0094p1-24 | Diabetes A | ESPE2021

Resolution of feeding problems in patients with congenital hyperinsulinism

Worth Chris , Hall Caroline , Wilson Sarah , Gilligan Niamh , O’Shea Elaine , Salomon-Estebanez Maria , Dunne Mark , Banerjee Indraneel ,

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...

hrp0094p1-61 | Diabetes B | ESPE2021

Timing of Hypoglycaemia in Patients with Hyperinsulinism (HI): Extension of the Digital Phenotype

Worth Chris , Harper Simon , Salomon-Estebanez Maria , O’Shea Elaine , Nutter Paul , Dunne Mark J , Banerjee Indraneel ,

Background: Hyperinsulinism (HI) due to excess and dysregulated insulin secretion is the most common cause of severe and recurrent hypoglycaemia in childhood. High cerebral glucose utilisation in the early hours results in high risk of hypoglycaemia for people with diabetes and carries a significant risk of brain injury. Prevention of hypoglycaemia is the cornerstone of management for HI but the risk of hypoglycaemia at night or indeed the timing of hypoglycae...

hrp0094p2-13 | Adrenals and HPA Axis | ESPE2021

Utilisation Of The I-CAH Registry As A Tool For Facilitating Health Quality Improvement Strategies- Results Of An International Survey Of Specialist Centres

Ali Salma R. , Bryce Jillian , McMillan Martin , O’Connell Michele , Davies Justin H. , Ahmed S. Faisal ,

Background: Recent studies using data from the International Congenital Adrenal Hyperplasia (CAH) Registry (www.i-cah.org) (1), have provided valuable insight into the determinants of reported acute adrenal insufficiency (AI) related adverse events, demonstrating that the I-CAH Registry can be used as a tool to create clinical benchmarks in CAH care.Methods: Care quality reports were created for 32 centres who participat...

hrp0094p2-182 | Fat, metabolism and obesity | ESPE2021

Describing the Natural History of Clinical, Biochemical and Radiological outcomes of children with Familial Partial Lipodystrophy type 2 (FPLD2) attending a National Service for Severe Insulin Resistance: a Retrospective Cohort Study

Xuan Zhong Zhu , Stears Anna , Harris Julie , Wilber Ellen , Savage David , O’Rahilly Stephen , Williams Rachel ,

Background: FPLD2 results from autosomal dominant mutations in the LMNA gene. The physical appearance develops through adolescence where subcutaneous fat deposits of the limbs, trunk, buttocks and legs do not develop resulting in a muscular appearance. The metabolic phenotype includes elevations in triglyceride concentrations and hepatosteatosis with resultant insulin resistance. Co-morbidities that may manifest during young adulthood include early-onset diabe...

hrp0097rfc14.3 | Late Breaking | ESPE2023

Body composition in a pediatric population with type 1 diabetes mellitus - the importance of planned physical activity

Adriana Rangel Maria , Pires Rita , Lopes Vilma , Lima Conceição , Arménia Campos Rosa , Luísa Leite Ana

Introduction: Type 1 diabetes mellitus (T1DM) is associated with significantly higher cardiovascular disease mortality compared to the general population, even when glycated hemoglobin (HbA1c) is less than 7.0%. Inadequate body composition may increase the risk.Aim and Methods: To evaluate body composition of a group of pediatric patients with T1DM, from Portuguese Pediatric Endocrinology/Diabetic Clinic, using the bioim...

hrp0097p1-144 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

Idiopathic Central Precocious Puberty on the Rise: A Retrospective Study Before and During the COVID-19 Pandemic in a Portuguese Tertiary-Level Hospital

Miguel Resende Maria , Gomes Pereira Patrícia , Mendes Catarina , João Oliveira Maria , Borges Teresa , Freitas Joana

Background and Aims: In light of the recent evidence suggesting an increase in idiopathic central precocious puberty (ICPP) cases during the COVID-19 pandemic, this study aimed to assess the proportion of patients referred for precocious puberty (PP) and, within this group, the number of ICPP cases diagnosed before and during the pandemic. Additionally, we compared the demographic, anthropometric, and clinical characteristics of ICPP patients between the two g...

hrp0097p2-90 | Multisystem Endocrine Disorders | ESPE2023

Autosomal dominant hypocalcemia: A diagnostic and therapeutic challenge

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Azpilicueta Idarreta Maria , de la Camara Moraño Carmen

Introduction and Aims: Autosomal dominant hypocalcemia or type V Bartter syndrome is characterized by hypocalcemia, low parathyroid hormone (PTH), and calciuria, which marks its prognosis due to the risk of nephrocalcinosis. It is caused by activating mutations in the calcium-sensing receptor (CASR) gene (3q21.1), which is expressed in the parathyroid and renal tubules, causing salt and potassium loss, due to the inhibition of the ROMK and NKCC2 channels. We s...

hrp0098p2-38 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Kenny-caffey syndrome in the neonatal period

Eduarda Caseiro Alves M , Cadete Vitoria , Marques Filipa , Carneiro Rita , Farela Neves João , Galhardo Júlia

Introduction: Kenny-Caffey Syndrome Type 2 (KCS2) is a rare autosomal dominant genetic disorder caused by variants in the FAM111A gene, leading to cortical thickening and medullary stenosis of long bones. It is characterized by primary hypoparathyroidism, electrolyte disturbances, skeletal dysplasia with delayed closure of the anterior fontanelle, hypertelorism, and short stature. Intellectual development is normal.Case Report:</...