hrp0098p2-260 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2024

Care of transgender children and adolescents in our region: nine years of experience of a multidisciplinary working group

Bertholt Zuber Laura , Portal Buenaga Marina , Alonso Rubio Pablo , Villar Bonet Aurelia , Pazos Toral Fernando , Canceller Meseguer Telva , Zorrilla Arce Ana

Background: In recent years, the number of consultations of transgender children and adolescents has gradually increased. In our region, this group receives care from a specialized multidisciplinary team, formed in 2015. It is basically composed of a psychosexologist, two adult endocrinologist, a pediatric endocrinologist, among other specialists.Objective: To describe the characteristics of the children and adolescents ...

hrp0082p2-d3-314 | Bone (2) | ESPE2014

Early Calcinosis Cutis, Short Stature and Brachydactyly: a Case Evolution

Riano-Galan Isolina , Rodriguez-Dehli Cristina , Huidobro-Fernandez Belen , Alvarez M Victoria , Flores Silvia Avila , Toral Joaquin Fernandez

Background: Subcutaneous calcification is a rare clinical symptom in infancy. Progressive evolution and association with brachydactyly could be indicators of Albright hereditary osteodystrophy (AHO). In clinical practice, AHO is difficult to diagnose because of clinical heterogeneity. Typical features of AHO without any evidence of hormone resistance are termed pseudopseudohypoparathyroidism (PPHP; OMIM 612463).Case report: Male patient referred to study...

hrp0095p1-150 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Pubertal dysfunctions in intracranial germ cell tumours

Partenope Cristina , Carceller Fernando , Albanese Assunta

Introduction: Paediatric intracranial germ cell tumours (IC-GCTs) are often accompanied by precocious or delayed puberty, either at diagnosis caused by tumour itself or during follow-up as consequence of treatments.Aims: We examined the prevalence of pubertal dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up.Methods: We recorded clinical...

hrp0084p2-529 | Puberty | ESPE2015

Doppler Evaluation of the Uterine Artery for the Diagnosis and Follow-Up of Patients with Precocious Puberty

Linares Jeannette , Espinoza Anibal , Riquelme Joel , Avila Alejandra , Cassorla Fernando

Background: Pelvic ultrasound is used for the diagnosis and follow-up of girls with precocious puberty (PP). This tool may be somewhat misleading, because during treatment some patients may persist with pubertal uterine and ovarian anatomy. Oestrogens decrease the resistance of the uterine arteries, so Doppler evaluation of these vessels might be a useful complementary exam to determine the effects of treatment in these patients.Objective and hypotheses:...

hrp0094p2-348 | Pituitary, neuroendocrinology and puberty | ESPE2021

Endocrine manifestations of paediatric intracranial germ cell tumour: from diagnosis to long-term follow-up

Partenope Cristina , Pozzobon Gabriella , Carceller Fernando , Albanese Assunta ,

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.Methods: We collected clinical, radiological, histopathological and hormonal...

hrp0094p2-356 | Pituitary, neuroendocrinology and puberty | ESPE2021

Delayed diagnosis of paediatric intracranial germ cell tumour (IC-GCTs)

Partenope Cristina , Pozzobon Gabriella , Carceller Fernando , Albanese Assunta ,

Introduction: Delays in diagnosis of IC-GCTs in the paediatric age have been frequently reported, affecting outcomes and prognosis.Aims: This study analysed clinical features of children with IC-GCTs treated at two European tertiary centres in the last 25 years. We retrospectively reviewed time lag between symptoms onset, radiological findings and definitive diagnosis of IC-GCT.Methods: Presenting ...

hrp0095p2-207 | Multisystem Endocrine Disorders | ESPE2022

Bisphenol A (BPA): A Hidden Enemy

Grau Gema , Andrade Fernando , Vela Amaya , López Oceja Raquel , Rica Itxaso

Introduction: Endocrino disruptors (EDs) are substances that interfere with hormonal function. The long list of EDs includes multiple natural compounds and numerous synthetic chemicals such as bisphenol A (BPA). BPA is present in plastics used in common products (Packaging, bottles, toys, digital media, etc). Several studies have shown its ability to alter the regulation of developmentally relevant genes, inhibit the synthesis of sex hormones and induce the pr...

hrp0092p3-322 | Late Breaking Abstracts | ESPE2019

Bartter Syndrome Complicated with Growth Hormone Deficiency Due to a Suprasellar Arachnoid Cyst

Hashim Raihana , Atapattu Navoda , Fernando Jerard , Prematilake Dilusha , Gunasekara Buddi , Suntharesan Janani , De Silva Dimarsha

Introduction: Bartter syndrome (BS) is a rare genetic renal tubular disorder characterized by hypokalemia, salt-wasting and metabolic alkalosis. Polyuria, polydipsia, hypokalemia and salt loss are responsible for the growth retardation seen in BS. Persistent growth failure despite optimizing medical therapy may be due to growth hormone (GH) deficiency.Case diagnosis and treatment: A 9-year-old girl diagnosed with Bartter...

hrp0089fc4.3 | GH & IGFs | ESPE2018

The Reduction in Longitudinal Growth Induced By PAPP-A2 Deficiency is Associated with Reduced Body Weight, Increased Energy Expenditure and Behavior Modification

Suarez Juan , Rivera Patricia , Vargas Antonio , Rubio Leticia , de Fonseca Fernando Rodriguez , Chowen Julie , Argente Jesus

Background: Pregnancy associated plasma protein (PAPP)-A2 is an insulin-like growth factor (IGF) binding protein (BP) protease that regulates IGF-1 availability, affecting postnatal growth. We have recently reported the first mutations in human PAPP-A2 causing short stature and changes in bone size and mineral density. However, the IGF system is involved in diverse physiological functions and to date it is unknown how mutations in PAPP-A2, which significantly reduce f...

hrp0097p1-200 | Adrenals and HPA Axis | ESPE2023

Evaluation of chromatin remodeling factors ATRX and DAXX and telomeres in pediatric adrenocortical tumors.

F Stecchini Monica , Carolina Bueno Ana , R de Campos Mateus , Marrero-Gutiérrez Junier , A Cardinalli Izilda , Junqueira Tais , A Scridelli Carlos , AF Molina Carlos , Tucci Silvio , B Coeli-Lacchini Fernanda , C Moreira Ayrton , S Ramalho Fernando , NZ Ramalho Leandra , R Brandalise Silvia , A Yunes Jose , Chahud Fernando , ZN Vêncio Ricardo , de Castro Margaret , R Antonini Sonir

Background: Impairment of the chromatin remodeling factors ATRX and DAXX and telomeres abnormality play a role in cancer biology, influencing the clinical outcomes. However, their roles in adrenal tumorigenesis require broader investigation.Aim: To evaluate ATRX and DAXX genotype and expression, telomere length, and the alternative lengthening of telomeres (ALT), as well as their clinical significance, in primary adrenoc...