hrp0097p2-107 | GH and IGFs | ESPE2023

Metabolic parameters in a series of patients with Prader-Willi syndrome treated with recombinant growth hormone

Manole Diandra , Radomir Lidia , Boboc Madalina , Brehar Andreea , Procopiuc Camelia , Iordachescu Carmen , Padure Adriana , Vladoiu Suzana , Gherlan Iuliana

Introduction: Prader-Willi syndrome (PWS) is a rare paternally inherited genetic disorder caused by alteration of chromosome 15q11-q13. Associated hypothalamic impairment leads to hyperphagia which therefore increases the risk for morbid obesity, dyslipidaemia, insulin resistance and arterial hypertension and in the end increases mortality. Patients with PWS benefit of recombinant growth hormone (rGH) treatment despite the GH reservoir to improve their impaire...

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...

hrp0098t8 | Top 20 Posters | ESPE2024

Predicting the risk of fragility fractures in childhood hematologic cancer survivors

Cima Luminita-Nicoleta , Iustina Grosu , Oprescu Raluca , Soare Iulia , Gabriela Barbu Carmen , Colita Anca , Jercan Cristina , Serbanica Andreea , Fica Simona

Background: Childhood hematologic malignancies are no longer a death sentence. With survival rates significantly increasing, focus needs to shift towards diminishing long-term adverse effects, such as bone disorders. In childhood hematologic cancer survivors (CHCS), peak bone mass is not usually attained due to malginancy-related inflammation, treatments employed or subsequent endocrine complications. Thus, low BMD is frequent. However, in the absence of fragi...

hrp0098p2-288 | Thyroid | ESPE2024

BRAF mutation in a pediatric patient incidentally discovered with papillary thyroid cancer- case report

Cima Luminita-Nicoleta , Dumitrache Sabina , Grosu Iustina , Oprescu Raluca , Zubaci Ana , Iliescu Marina , Puscasu Diana , Gabriela Barbu Carmen , Fica Simona

Introduction: Papillary thyroid carcinoma (PTC) in the pediatric and young adult population presents contradictory features: it shows higher rates of multifocal disease, local and distant metastasis, and recurrence compared to adults, yet the overall 5-year survival rate remains exceptionally high at 98-100%. In children, RET/PTC rearrangements are the major somatic genetic alterations that drive the formation of PTC. On the other hand, mutations in <...

hrp0098p3-86 | Fat, Metabolism and Obesity | ESPE2024

Setmelanotide as treatment for obesity due to leptin receptor (LEPR) deficiency in a child under 6 years of age

Ariza-Jimenez Ana-Belen , Ariza-Jimenez Jose-Antonio , Alarcon Roldan Maria-Angeles , de la Camara Moraño Carmen

Introduction: LEPR regulates body mass via a negative feedback mechanism between adipose tissue and the hypothalamus. Leptin resistance is characterized by reduced satiety, over-consumption of nutrients, and increased total body mass. Often this leads to obesity, which reduces the effectiveness of using exogenous leptin as a therapeutic agent. Setmelanotide is an approved treatment for severe obesity due to LEPR in patients older than 6 years old.<p class=...

hrp0095ha1 | Development of Anorexigenic and Glucoregulatory Chimeric Peptides | ESPE2022

Development of Anorexigenic and Glucoregulatory Chimeric Peptides

Roth Christian , Salameh Therese , Kamat Varun , Milliken Brandon , Doyle Robert , Chichura Kylie S. , Sweet Ian , Carmen L. De Cunto , Elfers Clinton

Designing monomeric dual or triple agonists based on glucagon-like peptide (GLP)-1 with glucagon, and/or glucose-dependent insulinotropic polypeptide (GIP) are promising novel approaches for anti-obesity drugs tackling different weight-regulatory pathways, albeit such developments continue to suffer from significant gastrointestinal illnesses. Our own studies have focused instead on the combination of GLP-1 receptor agonists (GLP-1RAs) with neuropeptide Y1- and Y2-receptor (Y1...

hrp0095fc2.5 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Effects of burosumab treatment on mineral homeostasis in children and adolescents with X-linked hypophosphatemia: lessons from the German XLH Registry

Ewert Annika , Rehberg Mirko , Hiort Olaf , Binder Gerhard , Schröder Carmen , Jorch Norbert , Richter-Unruh Annette , Freiberg Clemens , Peter Schlingmann Karl , Haffner Dieter , Schnabel Dirk

Introduction: Burosumab was approved for treatment of pediatric patients with X-linked hypophosphatemia (XLH). However, data on its efficacy in adolescents (age > 12 years) and in real-world settings are lacking.Material and methods: Here we assess the effects of 12 months burosumab treatment on mineral homeostasis in 77 pediatric XLH patients (50 children, 27 adolescents) enrolled in the German XLH Registry. Age and ...

hrp0095p1-81 | Fat, Metabolism and Obesity | ESPE2022

The relationship between body mass index, adipose indices measured by whole-body DXA and markers of cardio-metabolic risk in survivors of childhood medulloblastoma

Cima Luminita-Nicoleta , Iliescu Marina , Soare Iulia , Nedelea Lavinia , Oprescu Raluca , Tarna Mihaela , Comsa Codruta , Dragomir Monica , Gabriela Barbu Carmen , Fica Simona

Background: Endocrine disturbances are the most prevalent complications in childhood cancer survivors (CSS), especially in those treated with cranial and cervical radiation for brain tumours, such as medulloblastoma. Recent data have shown frequent delays in the diagnosis and treatment of these complications that may lead to potential side-effects on general health. Apart from the well-known hypothalamic–pituitary and growth disorders observed in CSS, th...

hrp0095p1-511 | Growth and Syndromes | ESPE2022

Clinical characterization of patients with SHOX variants regarding their functional classification

Rodríguez Barrios Carmen , Domínguez Riscart Jesús , García Zarzuela Ana , Arellano Ruis Paola , Heath Karen , M. Lechuga-Sancho Alfonso

Introduction: Short stature is frequently caused by SHOX variants causing functional deficiency. SHOX resides in the pseudoautosomal region (PAR1) of the sex chromosomes and SHOX/enhancer alterations result in a broad phenotypic range: from Langer mesomelic dysplasia, Léri-Weill dyschondrosteosis to idiopathic short stature (ISS). Growth hormone (GH) therapy is indicated for those individuals with short stature due to SHOXdeficiency. A frequent limitati...

hrp0095p2-32 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

A novel pathogenic variant in PLS3 causing severe osteoporosis and vertebral fractures in an adolescent

García-Zarzuela Ana , Domínguez-Riscart Jesús , Paola Arellano-Ruiz , Carmen Rodríguez-Barrios , Silvia Modamio-Høybjør , Mª Lechuga-Sancho Alfonso

Introduction: Bone fragility or predisposition to fractures with low-impact energy is a rare but potentially limiting condition. Variations in PLS3 gene are a cause of monogenic osteoporosis due to the alteration of osteoclast and osteocyte function and bone mineralization. It is characterized by early-onset osteoporosis, peripheral fractures, vertebral compression fractures and thoracic kyphosis. Due to its X-linked inheritance, the phenotype is more severe i...