hrp0094p2-103 | Diabetes and insulin | ESPE2021

Diabetes in a child with infantile onset multisystem neurological, endocrine and pancreatic disease (IMNEPD)

Becker Marianne , Seneca Sara , Schierloh Ulrike , Witsch Michael , de Beaufort Carine , Scalais Emmanuel ,

IMNEPD is a mitochondrial disease caused by homozygous mutations in the PTRH2 gene, a nuclear gene coding for a primary mitochondrial protein. IMNEPD was first described in 2014. So far only 3 other case reports have been published, reporting on a total of 15 patients. We report on two affected siblings of whom the girl developed an antibody negative diabetes at 13 years of age with typical symptoms (polyuria, polydipsia, weight loss of 1,5 kg), and without diabetic k...

hrp0097p1-430 | Diabetes and Insulin | ESPE2023

What do they eat? Calculation of carbohydrate, fat and protein intake in children with type 1 diabetes (T1D) by use of an image based analysis by smartphone.

Bachmann Sara , Steiner Gioia , Claude Fabien , Hess Melanie , Szinnai Gabor , Burckhardt Marie-Anne

Background: Carbohydrate counting is essential in diabetes management to match insulin doses to carbohydrate intake. Though recommendations concerning macronutritient composition exist (ISPAD Clinical Practice Consensus Guidelines 2022: Nutritional management in children and adolescents with diabetes), fat and protein intake is usually not calculated. Therefore, little is known if these recommendations are followed. Lower carbohydrate intake is reported to be ...

hrp0097p1-431 | Diabetes and Insulin | ESPE2023

Telemedicine usefulness in the follow-up of young people with diabetes 1 diabetes 2-years after the spread of COVID-19

Predieri Barbara , Candia Francesco , Stefanelli Francesca , Vandelli Sara , Lucaccioni Laura , Bruzzi Patrizia , Iughetti Lorenzo

Introduction: Telemedicine was adopted during the lockdown due to the COVID-19 pandemic in the follow-up of patients with type 1 diabetes (T1D). Because of its potential to reinforce self-management support outside health care settings it was used still after the lockdown.Objectives: Longitudinal and observational study aimed to investigate effectiveness of telemedicine in the follow-up of young people with T1D over the ...

hrp0097p1-106 | GH and IGFs | ESPE2023

Growth Hormone (GH) Therapy in Children with short stature: A cross-sectional study of indication and treatment outcomes- 12-year single center experience

Al Jneibi Sara , Hammouri Marwa , Taha Fatima , Allami Zahraa , Weber Stefan , AlJubeh Jamal , Al Remeithi Sareea

Background: GH deficiency remains the main indication for GH therapy in children. GH therapy has subsequently been approved in the USA and Europe for other conditions resulting in short stature, including Turner Syndrome, being born small for gestational age with failure to attain normal growth, Prader-Willi Syndrome, chronic renal insufficiency, short stature homeobox-containing gene deficiency, and in the USA exclusively Noonan Syndrome and idiopathic short ...

hrp0097p1-372 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Incidence of differences of sex development in Switzerland 2000-2019

Metzger Sara , Sommer Grit , Flück Christa , DSD Cohort Study Group Swiss

Background: Differences in sex development (DSD) comprise a large group of rare, mostly genetic disorders along the path of human sexual development. Since the Chicago Consensus, health care providers group them in sex chromosome DSD, 46,XY and 46,XX DSD with subgroups regarding their effect on sex hormone synthesis, action or excess, on gonadal development, and others. Incidence of rare DSD is not well established despite public interest.<p class="abstext...

hrp0097p1-566 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Inhibin A (INHA) and steroidogenic factor 1 (SF-1/NR5A1) collaborate in regulating human sex development.

Naamneh Elzenaty Rawda , Sara Sauter Kay , Kouri Chrysanthi , Martinez de Lapiscina Idoia , E. Flück Christa

Background: Inhibin consists of two homologous subunits, the α (INHA) and the βA or βB subunits (INHBA/INHBB). Both inhibins play an important role in the hypothalamic-pituitary-gonadal axis by regulating the follicle stimulating hormone levels. INHA knockout mice develop mixed or incompletely differentiated gonadal stromal tumours. In females, some INHA variants have been associated with primary ova...

hrp0097p2-219 | Adrenals and HPA Axis | ESPE2023

Osteoporosis as the first sign of Cushing disease - a case report

Łupińska Anna , Stawerska Renata , Aszkiełowicz Sara , Kowalik Dorota , Lewiński Andrzej

We present the case of a 16.5-year-old short, thin boy with Cushing disease. The first symptom of the disease was spinal pain and vertebral fractures attributed to osteoporosis. The patient was admitted to the clinic due to severe back pain. On dual X-ray absorptiometry (DXA), the Z-score TBLH was: -1.9, Z-score Spine: -4.2. The X-ray and magnetic resonance imaging (MRI) revealed multilevel fractures of the thoracolumbar vertebrae. The causes of this condition initially remain...

hrp0097p2-118 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Evaluation of the frequency of decreased bone mineral density and the impact of selected auxological and hormonal factors on bone mass among children with endocrine disorders

Stawerska Renata , Łupińska Anna , Aszkiełowicz Sara , Lewiński Andrzej

Introduction: Bone mineral density (BMD) is affected not only by genetic and enviromental causes, but various hormonal factors. It seems reasonable to seek for dependencies between BMD and paediatric endocrinopathies. The aim of the study was to assess the frequency of decreased BMD in children with several endocrinological disorders and evaluate the influence of selected auxological and hormonal parameters on their BMD.Materials...

hrp0098rfc2.3 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Optimizing the Growth Outcome follow up in Hypophosphatemic Rickets Treated with Burosumab: The Critical Role of Auxological Measurements

Zoletto Silvia , Mozzato Chiara , Motola Sara , Burati Giulia , Sanetti Virginia , Laura Guazzarotti

Background: Hypophosphatemic rickets (HR) associated with elevated FGF23 plasma levels is a disorder characterized by renal phosphate wasting, leading to impaired bone mineralization. Conventional therapy, based on oral phosphate and calcitriol, has limited efficacy and tolerability. In 2018, burosumab, a monoclonal antibody against fibroblast growth factor 23 (FGF-23), was approved for the treatment of X-linked hypophosphatemia (XLH). However, data on burosum...

hrp0098p1-118 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Patient-Centred Data Collection Provides Comprehensive Insights into Healthcare Resource Use in Achondroplasia: Data From the Pilot Phase of the VIrtual STudy in Achondroplasia (VISTA)

Pimenta Jeanne , Abner Sophia , Chen Joy , Chu Dorna , Dosenovic Sara , Horvathova Veronika , Fettes Fiona

Background: Achondroplasia (ACH) is a rare genetic condition caused by a gain-of-function variant in the fibroblast growth factor receptor 3 (FGFR3) gene. It results in severe disproportionate short stature and medical complications requiring multidisciplinary care. Vosoritide, a C-type natriuretic peptide analogue, is currently the only approved targeted treatment for children with ACH from birth to epiphyseal closure. Understanding real-world ACH management ...