hrp0097rfc5.2 | Diabetes and insulin 1 | ESPE2023

Comparison of Optical Coherence Tomography Angiography Findings in Children with Type 1 Diabetes Mellitus and Autoimmune Thyroiditis with Healthy Children

Anıl Korkmaz Hüseyin , Devebacak Ali , Mert Erbaş ibrahim , Değirmenci Cumali , Uyar Nilüfer , Afrashi Filiz , Özkan Behzat

Aim: The study aimed to assess the development of early diabetic retinopathy (DR), one of the microvascular complications, in patients with isolated type 1 diabetes mellitus (DM) (group 1), type 1 DM with a diagnosis of autoimmune thyroiditis (AT) (group 2), and healthy controls (group 3), which were matched for age, sex, number, and body mass index for comparison.Methods: In this prospective and observational study, gro...

hrp0097rfc1.4 | Adrenals and HPA Axis | ESPE2023

Lack of NAD(P)+ transhydrogenase activity in patients with primary adrenal insufficiency due to NNT mutations

Francisco Annelise , Mine Yilmaz Goler Ayse , Daniele Carvalho Navarro Claudia , Onder Asan , Yildiz Melek , Kendir Demirkol Yasemin , Karademir Yilmaz Betul , Seven Menevse Tuba , Guran Tulay , Frigério Castilho Roger

Background: Mutations in the nicotinamide nucleotide transhydrogenase (NNT) gene are a rare cause of primary adrenal insufficiency (PAI), as well as cardiomyopathies and functional impairment of the gonads.Objective: Despite the description of different NNT mutations in homozygosis and compound heterozygosis in PAI patients, it remains to be clarified to which extent the function and expression of the m...

hrp0097p1-34 | Diabetes and Insulin | ESPE2023

Evaluation of Mitochondrial Bioenergetic Function in Mitochondrial and Type 1 Diabetes

Gurpinar Tosun Busra , Francisco Annelise , D. C. Navarro Claudia , Seven Menevse Tuba , Polat Hamza , Ozturk Hismi Burcu , Kahveci Ahmet , Turan Serap , Haliloglu Belma , Mine Yilmaz Ayse , Karademir Yilmaz Betul , Bereket Abdullah , F. Castilho Roger , Guran Tulay

Background and hypothesis: Mitochondrial disorders are multisystemic conditions associated with sensorineural hearing loss, encephalomyopathy, lactic acidosis, and non-autoimmune diabetes. The majority of molecular etiologies involve mutations in the genes encoding the oxidative phosphorylation system's components. Superoxide generation is significantly increased and causes oxidative damage in the affected tissues in these disorders. The establishment of ...

hrp0086p1-p737 | Pituitary and Neuroendocrinology P1 | ESPE2016

Screening of PROP-1, LHX2 and POU1F1 Mutations in Patients with Ectopic Posterior Pituitary Gland

Korkmaz Huseyin Anıl , Karaarslan Utku , Eraslan Cenk , Atila Dincer , Hazan Filiz , Barısık Vatan , Sevcan Ata Emine , Etlik Ozdal , Yıldız Melek , Ozkan Behzat

Background: Ectopic posterior pituitary gland (EPP) is characterized by an abnormal pituitary stalk and hypoplasia of the anterior hypophysis. The genetic mechanisms involved in the development of EPP remain uncertain.Objective and hypotheses: The aim of this study is to determine whether mutations in the three genes, PROP-1, LHX2, and POU1F1, are associated with the risk for and the characteristics of EPP.Method: In the Endocrinol...

hrp0095p1-10 | Adrenals and HPA Axis | ESPE2022

Outcomes of the low dose short Synacthen test in infancy

Park Julie , Jones Lily , Dharmaraj Poonam , Senniappan Senthil , Morgan Colin , Hawcutt Daniel , Blair Joanne

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...

hrp0095p1-20 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Report of the first paediatric case of hypercalciuric hypocalcaemia managed with simultaneous parathyroid and kidney transplantation

Oprea Alina , Jones Helen , Buck Jackie , Kessaris Nicos , D. Sinha Manish , Ware Nick , Cheung Moira

Background:Calcium-sensing receptors (CaSR) located on parathyroid glands and kidneys act to regulate serum calcium levels. Inherited hypocalciuric hypercalcaemia and autosomal dominant hypercalciuric hypocalcaemia are due to inactivating and activating CaSR mutations respectively. We present the immediate and medium term postoperative clinical course of the first paediatric patient with hypercalciuric hypocalcaemia managed with a simultaneous parathyroid and ...

hrp0095p1-267 | Fat, Metabolism and Obesity | ESPE2022

Feasibility of integrating an mHealth intervention to increase exercise and physical activity adherence into a weight management service for adolescents with severe obesity: MOTIVATE-WMA

Davies Andrew , Hesketh Katie , Clarke Ellie , Apperley Louise , Sprung Victoria , Jones Helen , Senniappan Senthil , Cocks Matthew

Introduction: The Royal College of Paediatrics and Child Health state that adolescents with significant obesity require access to evidence-based weight management services (WMS). Due to the known benefits of exercise and physical activity (PA) on physiological and psychological outcomes increasing exercise and PA should form a cornerstone of any WMS for adolescents living with obesity. However, supervised exercise interventions face challenges within a clinica...

hrp0095p1-287 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2022

Hyperinsulinism secondary to PMM2 gene variants: a case series from a quaternary centre reporting associated inflammatory bowel disease and aortopathy.

Shaunak Meera , Bockenhauer Detlef , Flanagan Sarah , Kiparissi Fevronia , Jones Kelsey , Gilbert Clare , Morgan Kate , Dastamani Antonia

Introduction: A promoter mutation (c.167G>T) in the phosphomannomutase 2 (PMM2) gene, either homozygous or occurring in trans with a PMM2 coding mutation, causes hyperinsulinism (HI) and polycystic kidney disease (PKD) – HIPKD. Organ-specific deficiency of PMM2 leads to the restricted phenotype of HIPKD, without typical clinical features of the Congenital Disorder of Glycosylation Type 1a (CDG1a), which is caused by recessive coding ...

hrp0095p1-390 | Thyroid | ESPE2022

Does serum thyroglobulin predict thyroxine requirement during infancy in athyreosis and thyroid ectopia?

Kallali Wafa , Neumann David , Jones Jeremy , Hunter Ian , Tasker Anthony , Smith Karen , Shaikh Guftar , Donaldson Malcolm

Background: Thyroglobulin (Tg), a protein synthesized uniquely in the thyroid gland, may be elevated in primary congenital hypothyroidism (CH) due to increased TSH drive, absent in true athyreosis and Tg deficiency, and very elevated in some types of dyshormonogenesis.Hypothesis: Serum Tg at the time of newborn screening may reflect the amount of thyroid tissue present in apparent athyreosis and thyroid ectopia, and henc...

hrp0089p1-p225 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology P1 | ESPE2018

Living with Clitoromegaly: Aqualitative Interview Study of Parent’s Responses to Clitoromegaly in Congenital Adrenal Hyperplasia (CAH) with or Without Appearance Altering Surgery

Alderson Julie , Nicoll Nicky , Thornton Maia , Jones Julie , Skae Mars , Crowne Elizabeth

Controversy continues regarding surgery in infancy to address atypical genitalia in girls with CAH and other Disorders of Sex Development. There is no consensus to surgical approach. Interest in outcomes of the range of surgical and non-surgical interventions for genital diversity is growing. It is widely acknowledged that the multi-professional management to promote long term psychosocial adaptation of the child based partly on confident parenting is essential. We conducted a...