ESPE Abstracts

Background: Pituitary function in children with optic chiasm glioma may be impaired.Objective and hypotheses: We aim to describe the frequency of endocrine abnormalities at diagnosis of the tumor and over the follow-up period in a group of children with chiasmatic glioma and its relation with different variables.Method: Retrospective study using the records of patients under 14 years old followed for optic chiasm glioma. Sex, age a...

Background: The progress made in the treatment of childhood cancer has resulted in better long-term survival rates. Therefore sequelae of treatment have become more important.Objective and hypotheses: To investigate the prevalence of early endocrine disorders in survivors of a childhood tumour within the 1st years after diagnosis.Method: We performed a retrospective medical record review of survivors followed at the endocrine clini...

Background: In paediatric CNS tumours, germ cell neoplasms usually produce endocrine disorders helping an early diagnosis.Objective and hypotheses: To describe presenting symptoms in paediatric CNS germ cell tumours and endocrine abnormalities on follow-up.Methods: We reviewed the records of children and adolescents aged under 14 who were followed in our unit presenting a CNS germ cell tumour. Endocrine abnormalities at diagnosis a...

Introduction: Growth hormone (GH) treatment has been shown to increase height velocity and adult height in patients with Noonan syndrome (NS). NS is also associated with cardiovascular (CV) anomalies, namely pulmonary stenosis and hypertrophic cardiomyopathy. Concerns persist about the role of GH in progression of CV conditions despite data, albeit limited, showing low rates of CV events and left ventricular wall thickness remaining normal. This pooled analysi...

The Easypod™ Connect Observational Study (ECOS) assessed real-time adherence in patients from 24 countries who were receiving recombinant human growth hormone (r-hGH; Saizen®) via easypod™, which is an electronic injection device. Overall, ECOS showed mean adherence was maintained at ~80% for up to 3 years. Here, we assess the adherence to r-hGH administered via easypod™ in the Argentinian cohort of patients from ECOS (NCT01582334).<p class="ab...

Background: Adrenocortical Tumors (ACT) is a rare endocrine malignancy with heterogeneous presentation.Aim: To evaluate the clinical, biochemical and pathologic characteristics of pediatric ACT in a single tertiary center.Subjects and methods: Review of 28 medical records with childhood ACT (chronological age (CA) <18 years (y) treated between 1987 and 2017. Clinical, biochemical, and histological features (Wieneke index), stag...

Introduction: The low-dose synacthen test (LDT) is widely used to assess central adrenal insufficiency (CAI); however, the total serum cortisol (C) cut-off value is controversial. A correct diagnosis of CAI is required, but overdiagnosis may lead to unnecessary hormone replacement therapy. Salivary cortisol (SC) reflects the levels of free serum cortisol and is a noninvasive alternative.Objective: To define a new cut-off value of serum cortisol in pediat...

Background: RARβ cooperates with Nur77 to in-vitro regulate HSD3B2 transcription. NUR77 expression parallels HSD3B2 expression with a much lower level in androgen-producing adrenocortical tissues (childhood virilizing adrenocortical tumours (VAT), fetal zone (FeZ) and zona reticularis, ZR). RARβ is down-regulated in starved, hyperandrogenic H295R cells. However, the mechanisms regulating this expression pattern and the relevance of RARβ to huma...

Background: Disorders of sex development (DSD) are those congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. 45,X/46,XY mosaicism results in a large clinical spectrum of DSD including from female patients with Turner’s syndrome to normal appearing males.Objective and hypotheses: The main aim of this study is to review the clinical and gonad histological findings in a cohort of chromosomal DSD patients f...

Background: Androgen insensitivity syndrome (AIS) is an X-linked hereditary disease with AR gene loss-of-function mutations in 46,XY patients. They undergoes poor development of secondary sex characteristics, except for breast development at puberty. AIS patients are prone to develop germ cell cancer, even though with lower incidence than in dysgenetic gonads secondary to defects in organogenesis.Case presentation: We described a 3-years-old gir...