hrp0098p3-256 | Thyroid | ESPE2024

Van Wyk Grumbach syndrome – an exciting disease with different causes and forms of presentation

Reichardt Susen , Gemulla Gita , Hübner Angela

Van Wyk and Grumbach reported the association of untreated chronic hypothyroidism with precious puberty, pituitary enlargement and multicystic ovaries first in 1960. TRH-induced TSH excess causes macropituitary gland and stimulation of the gonadal FSH receptors, which explains the phenotype isosexual precious puberty and multi-cystic ovaries. In the following we report on two patients with this rare syndrome. The first patient is an 11 year old girl from Venezuela, who moved t...

hrp0082p1-d1-182 | Perinatal and Neonatal Endocrinology | ESPE2014

Clinical and Histological Heterogeneity of Congenital Hyperinsulinism Due to Paternally Inherited Heterozygous ABCC8/KCNJ11 Mutations

Arya Ved Bhushan , Guemes Maria , Nessa Azizun , Alam Syeda , Shah Pratik , Gilbert Clare , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Context: Congenital hyperinsulinism (CHI) has two main histological types – diffuse and focal. Diffuse CHI is due to recessive or dominant mutations in ABCC8/KCNJ11. Focal disease is due to somatic maternal allele loss of 11p15 in pancreatic β-cells along with paternally inherited germline ABCC8/KCNJ11 mutation. Fluorine-18 L-3, 4-dihydroxyphenylalanine positron emission tomography computerized tomography (18F DOPA–PET...

hrp0084p2-202 | Adrenals | ESPE2015

Autoimmune Polyglandular Syndrome Type 1 in Russia: Clinical Experience in 112 Patients

Orlova Elizaveta , Sozaeva Leila , Kareva Maria , Oftedal Bergithe E , Breivik Lars , Knappskog Per M , Zakharova Ekaterina , Husebye Eystein S , Peterkova Valentina

Background: Autoimmune polyglandular syndrome type 1 (APS-1) is a rare disease associated with mutations in the autoimmune regulator (AIRE) gene and characterized by mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and primary adrenal insufficiency (AI). Two of these three components are required for diagnosis.Objective and hypotheses: To describe Russian patients in terms of clinical, genetic, and immunological parameters....

hrp0097p1-359 | Pituitary, Neuroendocrinology and Puberty | ESPE2023

An Evaluation of coping strategies in girls diagnosed of central precocious puberty before and after the COVID-19 lockdown, and in their mothers: preliminary study.

E Street Maria , Rollo Dolores , Rossi Maurizio , Sartori Chiara , Petraroli Maddalena , Pilloni Simone , Francavilla Roberta , Lattanzi Claudia , Miglioli Irene , Iughetti Lorenzo , Stagi Stefano

During the COVID-19 pandemic, a significant increase in Central Precocious Puberty(CPP) has been observed worldwide. The reasons for this phenomenon are yet unclear. In order to evaluate if fear, stress and coping strategies used by children and parents when dealing with negative emotional situations and health issues might have acted as triggers for this phenomenon, we administered specific questionnaires to girls who had a diagnosis of CPP before and after the COVID-19 relat...

hrp0092fc13.3 | Adrenals and HP Axis | ESPE2019

YAP1-HIPPO Pathway as a Novel Prognostic Marker and Therapeutic Target for Pediatric Patients with Adrenocortical Tumors (ACT)

More Candy Bellido , Bueno Ana Carolina , Castro Margaret , Antonini Sonir

Background: There is no effective adjuvant therapy for patients with advanced ACT. YAP1, a HIPPO pathway effector, interacts with Wtn\beta-catenin pathway and plays a crucial role in the maintenance of postnatal adrenal cortex and regulates cell proliferation and apoptosis in several tissues. We recently showed that overexpression of YAP1 associates with worse prognosis in our cohort of pediatric ACT (pACT).Aim: To analy...

hrp0086p1-p140 | Bone & Mineral Metabolism P1 | ESPE2016

Bone Mass and Vitamin D Status in Children and Adolescents with Generalized Epidermolysis Bullosa

Claudio Castro Luiz , Nobrega Yanna , Gandolfi Lenora , Pratesi Riccardo

Background: Inherited epidermolysis bullosa (EB) comprises a cluster of genetic disorders characterized by blistering of skin and mucosae following minimal mechanical traumas. Severely affected individuals have high risk of extracutaneous complications, including chronic undernourishment and low bone mass.Objective and hypotheses: The aims of this study were to assess the areal bone mineral density (aBMD) and vitamin D status of children and adolescents ...

hrp0082p2-d3-360 | Diabetes (2) | ESPE2014

‘My Diabetes’ Application for Android Devices as a Diabetes Management Tool

Ballester Maria Jose , Santillana Luis Alberto , Varvanov Rossen , Buch-Gasz Katarzyna , Gasz Adam , Sanchez Maria Jose , Lopez Carmen Maria , Martin Elena , Palomo Enrique

Introduction: A fundamental element in the successful diabetes management is the education of patients. Modern technology opens new horizons and provides new tools in empowering patients in their learning process.Objectives: Presentation, evaluation and critical medical review of ‘My Diabetes’ application whose Spanish version has been studied, reviewed and analysed in detail by our endocrinology unit and D-parents. Provide insight into its pot...

hrp0097rfc3.4 | Fat, metabolism and obesity 1 | ESPE2023

Effect of maternal diet and breastfeeding on growth and distribution of adiposity from birth up to 12 months: data from the European LIFE-MILCH project

Righi Beatrice , Alberghi Francesca , Fontana Marta , Pelosi Annalisa , Davolio Emanuela , Rotteglia Cecilia , Catellani Cecilia , Sartori Chiara , Shulhai Anna-Mariia , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E Street Maria

The ongoing European LIFE-MILCH project(www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages to establish a risk assessment model to prepare safety guidelines. In this study we have evaluated the effects of maternal diet during and after pregnancy, and of duration of ...

hrp0097p1-371 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2023

Effect of maternal diet on pubertal stages and ano-genital distance from birth up to 12 months: data from the European LIFE-MILCH project

Alberghi Francesca , Fontana Marta , Righi Beatrice , Shulhai Anna-Mariia , Davolio Emanuela , Rotteglia Cecilia , Pelosi Annalisa , Catellani Cecilia , Sartori Chiara , Buia Veronica , Maria Papini Anna , Fanos Vassilios , Palanza Paola , E. Street Maria

The ongoing European LIFE-MILCH project (www.lifemilch.eu), focuses on detecting Endocrine Disrupting Chemicals in mothers, in breast and formula milk and in urine of mothers and infants up to 12 months of age studying relationships with neurodevelopment, growth, distribution of adiposity, pubertal stages, and ano-genital distance (AGD) to establish a risk assessment model to prepare safety guidelines. In this study we evaluated the effects of maternal diet during and after pr...

hrp0098p1-116 | Bone, Growth Plate and Mineral Metabolism 2 | ESPE2024

Health related quality of life (HRQoL) of adolescents with XLH treated with burosumab at the end of skeletal growth (EoSG.

Saraff Vrinda , Arango Sancho Pedro , Bacchetta Justine , Linglart Agnès , Burren Christine , Chinoy Amish , Dharmaraj Poonam , Amelia Gómez Llorente Maria , David González Rodríguez Juan , Gueorguieva Iva , Haf Davies Elin , Hayes Wesley , Komarzynski Sandra , Ríos Duro Héctor , J Rylands Angela , Sandilands Kerry , Hardie Emily , Ishii Haruka , Schnabel Dirk , Selveindran San , M Boot Annemieke

Introduction: X-linked hypophosphatemia (XLH) is a rare, progressive, genetic disorder causing phosphate wasting; hence symptoms in children include impaired growth, lower limb deformities, chronic pain and impaired physical function. Health-related quality of life (HRQoL) of patients with XLH on conventional therapy is lower than that of the general population. Burosumab has been shown to improve HRQoL in younger children and adults, but its effects in adoles...