hrp0095p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

Exome sequencing reveals a high proportion of causal and candidate gene variants in a large early-onset Primary Ovarian Insufficiency cohort

M McGlacken-Byrne Sinead , P Suntharalingham Jenifer , Ishida Miho , Buonocore Federica , Del Valle Ignacio , Cameron-Pimblett Antoinette , Genomics UCL , T Dattani Mehul , S Conway Gerard , C Achermann John

Background: The presentation of early-onset Primary Ovarian Insufficiency (EO-POI), most often with primary amenorrhea, is at one end of a spectrum spanning 40 years. The aetiology of POI is frequently unclear but next generation sequencing of varied age groups has identified several associated genetic variants. Whether girls with EO-POI are more likely to have a genetic aetiology than those with later presentations remains unknown.<stro...

hrp0095lb12 | Late Breaking | ESPE2022

Sleep Quality in Caregivers of Type 1 Diabetes Mellitus Pediatric Patients - The Impact of isCGM Alarms

Sousa Eulália , Luís Telma , Cristina Santos Ana , Lima Conceição , Adriana Rangel Maria , Arménia Campos Rosa , Luísa Leite Ana

Background: Type 1 diabetes mellitus (T1DM) is one of the most frequent chronic diseases in the pediatric age and demands constant and rigorous glycemic control. Intermittently scanned continuous glucose monitoring (isCGM) systems are a helpful tool in diabetes management. Second-generation isCGM contain alarms to assist in the detection of hyper or hypoglycemia. We aimed to compare the sleep quality of principal caregivers of T1DM pediatric patients who use i...

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...

hrp0095p2-158 | Growth and Syndromes | ESPE2022

Global recall of a growth hormone jet delivered device: experiences with children forced to switch from a needle free system to a growth hormone device with needle.

P. van Eck Judith , S. Renes Judith , J.C. Sas Theo , L.T. van den Akker Erica , C.M. van der Kaay Daniëlle

Introduction: Growth hormone (GH) treatment is essential for growth in children with GH deficiency. Also short children born small for gestational age (SGA), and children with syndromes like Turner Syndrome (TS), Noonan Syndrome (NS) and Silver Russel Syndrome (SRS) can benefit from GH treatment. For children with needle anxiety GH delivered by a jet device can be a solution for the daily subcutaneous treatment for many years. In 2021, a global recall of the o...

hrp0095p2-181 | Growth and Syndromes | ESPE2022

IHH gene variant causing short stature and minor skeletal disorders

García-Zarzuela Ana , Domínguez-Riscart Jesús , Rodriguez-Barrios Carmen , Morales-Pérez Celia , Karen-Heath Emma , Mª Lechuga-Sancho Alfonso

Introduction: Short stature is a frequent reason for consultation in the paediatric age group. After appropriate clinical, radiological and laboratory evaluation, up to 60-80% of children are classified as idiopathic short stature (ISS) because no underlying cause can be found. Nowadays, the spreading of molecular is revealing that many of the patients initially classified as TBI, have variants in genes involved in the growth plate development. IHH gene is inv...

hrp0095p2-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Congenital Hypopituitarism and Diabetes Insipidus with Normal Radiological Pituitary Gland and a Mutation in IRF2BPL.

Jesús Dabad Moreno María , Ruiz Cano Rafael , Carmen Carrascosa-Romero María , Cerdán Oncala Sandra , Belén Delgado García Ana , De las Heras Gómez Lucía

Background: Congenital hypopituitarism (CH) is a group of disorders characterized by deficiencies in one or more hypophyseal hormones and a marked variability in genotype-phenotype correlations. Central diabetes insipidus (DI) is caused by a decreased release of ADH and results in a variable degree of polyuria. Their association is normally found in congenital cerebral midline abnormalities, such as septo-optic dysplasia.Objectiv...

hrp0092fc2.5 | Bone, Growth Plate and Mineral Metabolism Session 1 | ESPE2019

Age and Gender-Specific Reference Data for High-Resolution Magnetic Resonance Based Musculoskeletal Parameters in Healthy Children and Young People

Elsharkasi Huda M. , Chen ¹Suet C. , Steell Lewis , Joseph Shuko , Abdalrahman Naiemh , Johnston Blair , Foster John E. , Wong Sze C. , Ahmed S. Faisal

Background: The need to understand the relationship between bone, muscle, and fat within the bone-muscle unit has recently gained great prominence. Although high resolution (HR) MRI is a non-invasive imaging modality that can provide this information, there is limited expertise in children and young people.Objectives: To establish MRI-based normative data for bone, bone marrow adiposity and muscle adiposity in children a...

hrp0092fc4.3 | Fat Metabolism and Obesity Session | ESPE2019

Circulating Growth-and-Differentiation Factor-15 in Early Life: Relation to Prenatal and Postnatal Size

Díaz Marta , Campderrós Laura , López-Bermejo Abel , de Zegher Francis , Villarroya Francesc , Ibáñez Lourdes

Background: Growth-and-differentiation factor-15 (GDF15) is a regulator of energy homeostasis, and is used as biomarker of several pathological states.Objectives: To assess longitudinally GDF15 concentrations in a cohort of infants born either appropriate- (AGA, n=70) or small-for-gestational-age (SGA, n=33), the latter known to be at increased risk for central adiposity and metabolic alteration...

hrp0092fc6.6 | Bone, Growth Plate and Mineral Metabolism Session 2 | ESPE2019

Craniosynostosis in Inactivating PTH/PTHrP Signaling Disorder 2: A Non-Classical Feature to Consider

Riaño-Galan Isolina , Rothenbuhler Anya , Debza Yahya , Barosi Anna , Mantovani Giovanna , Perez de Nanclares Guiomar , Linglart Agnès

Classic features of inactivating PTH/PTHrP Signaling Disorder 2 or 3 (iPPSD2, iPPSD3), i.e. former pseudohypoparathyroidism include multi-hormone resistance, short stature, subcutaneous ossifications, brachydactyly, and early-onset obesity and a molecular defect at the GNAS region. In addition, patients may present with less-known features including craniosynostosis (CSO).Objective: To describe the prevalence of CSO in a cohort ...

hrp0092fc8.2 | Pituitary, Neuroendocrinology and Puberty Session 1 | ESPE2019

Analysis of Hypothalamic Metabolic Circuits after Normalization of Body Weight in Mice That Had Been Obese Due to High Fat Diet Intake

Guerra-Cantera Santiago , Frago Laura , Ros Purificación , Canelles Sandra , Díaz Francisca , Freire-Regatillo Alejandra , Torrecilla-Parra Marta Marta , Argente Jesús , Chowen Julie A.

The obesity epidemic continues to be a dramatic problem in the developed world despite attempts to curtail its rise. Reducing energy intake and/or increasing energy expenditure can result in weight loss; however, if one returns to their poor lifestyle habits the previous weight is not only recuperated, but often surpassed.We hypothesized that although a normal body weight may be achieved, the hypothalamic circuits controlling appetite and energy expendit...