hrp0095t8 | Section | ESPE2022

Caregiver Burden in Bardet-Biedl Syndrome: a Survey of Obesity and Hyperphagia Impacts

Forsythe Elizabeth , G. Mallya Usha , Yang Min , Huber Caroline , Lynn Cala Mary , Greatsinger Ali , Pomeroy Jeremy , M. Haqq Andrea

Background: Hyperphagia, or pathologic insatiable hunger, and early-onset obesity are prevalent clinical features of Bardet-Biedl syndrome (BBS), a rare genetic disorder. While hyperphagia and obesity have broad impacts on individuals with BBS and their caregivers, the extent of this burden is not well characterized.Methods: This multicountry cross-sectional survey of caregivers of individuals with BBS was conducted to q...

hrp0095p1-222 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Infantile Hypercalcemia Type 2 Due to Novel Mutation in SLC34A1 Gene

Öner Ganimet , Döğer Esra , Ceylaner Serdar , Kayhan Gülsüm , Bideci Aysun , Orhun Çamurdan Mahmut

Introduction: The SLC34A1 gene encodes the NaPi-IIa cotransporter, which plays an important role in phosphate reabsorption in the kidney proximal tubule. Inactivating mutations of this gene cause nephrolithiasis and osteoporosis, together with clinical pictures such as hypophosphatemic rickets type 1, Fanconi renotubular syndrome type 2, and infantile hypercalcemia type 2.Case: A 40-day-old male patient presented with me...

hrp0095p1-57 | Diabetes and Insulin | ESPE2022

Implications of parental anxiety, and fear of Hypoglycemia in glucose control of their Children with Type 1 Diabetes

Dominguez-Riscart Jesus , Garcia-Zarzuela AAna , Buero-Fernandez Nuria , Martin-Bravo Enrique , Ruiz-Ocaña Pablo , M Lechuga-Sancho Alfonso

Introduction: Hypoglycemia is the most common acute complication in T1D. It has ominous symptoms and it is potentially fatal. Parents of infants with T1D are instructed in how to avoid, detect and manage these episodes. However, it is well known that many parents develop fear of hypoglycemia (FoH) which may lead to phobic avoidance behaviors such as permanent hyperglycemia and anxiety, losing optimal metabolic control. We aimed to explore how parenting stress ...

hrp0095p1-240 | Diabetes and Insulin | ESPE2022

Successful inpatient use of a fully closed-loop (FCL) insulin delivery system in an adolescent with diabetes secondary to pancreatitis

Namasivayam Abirami , Walton-Betancourth Sandra , Hysted Helen , Ashford Jennifer , Myles Cliodhna , Hartnell Sara , Boughton Charlotte , Loredana Marcovecchio M , Thankamony Ajay

Background: Variable rate intravenous insulin infusion (VRIII) is commonly used in unwell patients with diabetes and complex nutritional needs. However, frequent blood glucose monitoring with infusion rate adjustment gives rise to significant safety concerns and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technological advancements in diabetes management. It comprises of continuous glucose monitoring and a control algorithm t...

hrp0095p1-367 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Evaluation of The Relationship Between the Immune and Endocrine System in Children Diagnosed with Polycystic Ovary Syndrome

Uygur Balık Ahmet , Keskin Mehmet , Karaoglan Murat , Keskin Ozlem , Yıldırım Ahmet , Albayrak Serpil

Polycystic ovary syndrome is the most common endocrinological disease in women of reproductive age. Although it is thought that pathologies such as insulin resistance, chronic low-level inflammation and hyperandrogenism are central theme of the disease, the exact pathophysiology of the disease has not been fully understood. This study’s aim is to reveal the relationship between routine endocrinological and immunological markers related to chronic inflammation, and to inv...

hrp0095p1-384 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

17 Β-Hydroxysteroid Dehydrogenase Type 3 Deficiency Diagnosed in Early Childhood

Öner Ganimet , Döğer Esra , Kayhan Gülsüm , Orhun Çamurdan Mahmut , Bideci Aysun

Introduction: 17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) enzyme provides the conversion of ∆4-Androstenedione (A) to testosterone (T) in testicles. 17β-HSD3 deficiency is a rare autosomal recessive cause of 46,XY disorders of sexual development (DSD) and is the most common form of testosterone biosynthesis defects. The external genitalia can vary from normal female appearance to atypical genitalia.C...

hrp0095lb19 | Late Breaking | ESPE2022

Early adrenal activation in boys with Cystic Fibrosis may explain impaired final height

Tamer Gizem , GM Arets Hubertus , K van der Ent Cornelis , M van Santen Hanneke , J van der Kamp Hetty

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

hrp0095p2-7 | Adrenals and HPA Axis | ESPE2022

Suboptimal cortisol response on ITT and subsequent adrenal insufficiency

Boyle Roisin , Sanderson Jennifer , Purton Daniel , Angela Lucas-Herald , McNeilly Jane , Mason Avril , Wong Jarod , Guftar M Shaikh , Ahmed Faisal

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

hrp0095p2-31 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Short Stature and Single Central Incisor of The Upper Maxillar: Pathogenic Variant in The SHH Gene

Dominguez-Riscart Jesus , Arellano-Ruiz Paola , Garcia-Zarzuela Ana , Modamio-Høybjør Silvia , M Lechuga-Sancho Alfonso

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

hrp0095p2-76 | Diabetes and Insulin | ESPE2022

Fibroblast growth factor 23 in relation to calcium-phosphate metabolism and cardiovascular risk factors in patients with type 1 diabetes.

Vermeulen Stephanie , E.A. Scheffer-Rath Mirjam , T.P. Besouw Martine , van der Vaart Amarens , H. de Borst Martin , M. Boot Annemieke

Introduction: Cardiovascular disease (CVD) is the major cause of morbidity and mortality in type 1 diabetes (T1D). Recent studies implicated deregulated phosphate homeostasis in the etiology of CVD. The objective of this study is to address the relationship between the phosphate-regulating hormone fibroblast growth factor 23 (FGF23) and cardiovascular risk factors in adults with and without type 1 diabetes (T1D).Methods:...