hrp0092p2-159 | GH and IGFs | ESPE2019

Growth Hormone Treatment Adherence in Latin American Patients: 2-Year Real World Data from the Easypod™ Connect eHealth Platform

Restrepo Manuela , Koledova Ekaterina , Tornicasa Vincenzo

The easypod™ injection device allows automatic recording and transmission of adherence data from patients receiving recombinant human growth hormone (r-hGH; Saizen) to treat growth disorders. Through the easypod™ connect platform, healthcare professionals can access transmitted data and gain insights into adherence patterns. This analysis aimed to evaluate real-world adherence to r-hGH therapy administered via easypod™ at 1, 3, 6 12 and 24 months, plus overall d...

hrp0092p1-247 | Multisystem Endocrine Disorders | ESPE2019

One AIRE Gene Mutation and Two Different Clinical Manifestations in a Couple of Brothers

Timpanaro Tiziana , Bizzarri Carla , Sauna Alessandra , Caruso-Nicoletti Manuela

Autoimmune polyglandular syndrome type 1 (APS-1) is also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED). Clinical manifestations are widely variable. It is an autoimmune disease which is characterized by the triad hypoparathyroidism, Addison disease, and chronic mucocutaneous candidiasis. However, several other autoimmune disorders, not necessarily endocrinological, differing in number and severity, may be present. APS1 is mostly caused by mut...

hrp0092p3-5 | Adrenals and HPA Axis | ESPE2019

Can Early Prenatal Prednisone Treatment Reduce Virilization of CAH Female Newborn?

Sauna Alessandra , Timpanaro Tiziana , Panebianco Valeria , Caruso-Nicoletti Manuela

A female second born of unrelated parents, at fourth pregnancy, born by vaginal delivery at 39 weeks of gestational age, weight 3145 g (-0.45 SDS), length 50 cm (0.12 SDS), head circumference 33 cm (-0.82 SDS), presented with DSD. The mother affected by hypothyroidism and autoimmune hepatitis, during the whole pregnancy was treated with levothyroxine and prednisone at the dose of 5 mg/day. At birth mild ambiguous genitalia (Prader stages I-II) were noticed and the baby was adm...

hrp0089p3-p388 | Thyroid P3 | ESPE2018

A Rare Case of Pediatric Hyperthyroidism

Ciccone Sara , Ubertini Graziamaria , Pasini Manuela , Stella Marcello

Background: Hyperthyroidism is rare in childhood and adolescence and Graves’ disease accounts for approximately 96% of pediatric cases of thyrotoxicosis.Case Report: A 12-year-old girl, with no relevant family or personal history, was examinated for a thyroid mass noticed a few days before. She also reported excessive sweating of the hands and mild psychomotor agitation. Clinical examination revealed, in addition to the right thyroid mass, other sig...

hrp0086p2-p586 | Perinatal Endocrinology P2 | ESPE2016

Hyperthyrotropinemia of the Preterm Newborn: Treat or Not to Treat?

Ossola Serena , Diana Manuela , Cardani Roberta , Agosti Massimo , Salvatoni Alessandro

Background: It is often difficult to establish whether hyperthyrotropinemia in preterm newborn is a simple physiologic energy sparing phenomenon or a true hypothyroidism requiring replacement treatment.Objective and hypotheses: This study aimed to find in what extent thyroid function in the preterm newborn can be influenced by clinical characteristics and complications.Method: We studied 35 preterm newborn, gestational age (GA) 32....

hrp0082p3-d2-640 | Adrenals & HP Axis (1) | ESPE2014

Therapeutic Troubles of Cushing’s Disease in Adolescence: Report of a Case

Deiana Manuela , Losa Marco , Trettene Adolfo , Scolari Alessandra , Salvatoni Alessandro

Background: Cushing’s disease, due to ACTH-secreting pituitary adenomas, is rare in the pediatric age (0.2–0.5/ million people per year), although accounts for 75–80% of Cushing syndrome in childhood compared to 49–71% in adulthood. We report clinical presentation, diagnostic workup and treatment of a new case with major therapeutics problems.Case report: A 15-year-old girl was referred to our clinic because of secondary amenorrhea, a...

hrp0084p3-845 | Fat | ESPE2015

RNAi as Tool to Study Molecular Mechanisms of Metabolic Adverse Reactions in Caenorhabditis Elegans

Hornle Manuela , Hellwig Isabelle , Hodgkinson Steve , Kaschka Wolfgang

Background: The introduction of second generation antipsychotic (SGA) drugs for the treatment of bipolar disorders has been associated with metabolic adverse reactions. Many studies cite significant weight gain as a common side effect, which is often attributed to dysfunction of glucose homeostasis and the development of dyslipidaemia. This in turn may trigger the early pathogenesis observed for example in type-2-diabetes. Factors controlling energy metabolism are largely cons...

hrp0092p2-247 | Sex Differentiation, Gonads and Gynaecology or Sex Endocrinology | ESPE2019

Does the Anogenital Distance Predict Outcome of Hypospadias Repair?

Springer Alexander , Riedl Stefan , Tonnhofer Ursula , Hiess Manuela , Metzelder Martin , Hebenstreit Doris

Purpose: The anogenital distance (AGD) is androgen action dependent. It is sexually dimorphic and seems to be shorter in androgen-action related diseases like hypospadias. In this study we sought to determine whether the AGD is predictive for surgical outcome in hypospadias repair.Material and Methods: Patients were collected prospectively. AGD was measured in OR prior to surgery by 2 surgeons (blinded, each 3 times). Ou...

hrp0086p1-p908 | Thyroid P1 | ESPE2016

Thyroid Function Anomalies in Children with Down Syndrome: Early TSH Alteration can Predict Future Hypothyroidism Development?

Mellia Jessica , Ottaviano Giorgio , Deiana Manuela , Marinoni Maddalena , Ragazzo Maria , Salvatoni Alessandro

Background: Subclinical hypothyroidism is a common finding in Down syndrome (DS) patients and transition towards overt hypothyroidism can occur, but there are no predictor factors to identify patients that will need replacement therapy later in life.Objective and hypotheses: This is a retrospective cohort study on a population of DS paediatric patients. This study was designed to evaluate possible early predictive features of hypothyroidism development.<...

hrp0094p2-213 | Fat, metabolism and obesity | ESPE2021

Influence of birth weight on cardiovascular risk factors in obese children and adolescents

Paraluppi Valentina , Casano Simona , Guzzetti Chiara , Ibba Anastasia , Murianni Agnese , Gallo Manuela , Casula Letizia , Loche Sandro ,

Background: Birth weight (BW) is associated with the development of obesity, insulin resistance and type-2 diabetes in adulthood. The results of studies on the correlation between BW and the severity of obesity and cardiovascular risk factors (CVRF) among obese children are contradictory. The objective of our study was to evaluate the association between birth weight and the presence of CVRF in genetically homogeneous group of obese children and adolescents.</...