ESPE Abstracts

Background: The risk of hypertension is estimated to occur in 7–17% of children and adolescents with TS. Even girls with TS who are normotensive have been shown an abnormal circadian BP rhythm, increasing the risk of end-organ hypertensive damage.Objective and hypotheses: We performed this study to assess the effects of GH treatment combined with estrogens for short stature on LV dimensions, systemic BP and lipid metabolism in girls with TS without ...

Background: Congenital hypothyroidism (CH) is an inborn disease with an incidence rate of 1 case per 3,600 newborns of which 15-20% cases are associated with thyroid dyshormonogenesis. The TPO gene encodes thyroid peroxidase. Disease associated with this gene is usually transmitted in an autosomal recessive mode. Hypothyroidism-associated TPO variants are usually biallelic, limited evidence for cases in patients with heterozygous variants exists.Method...

Introduction: Autoimmune polyendocrinopathy syndrome (APS) is an inherited rare autosomal recessive disorder caused by mutations of the AIRE (autoimmune regulator) gene with organ-specific autoimmune destruction of several, mostly endocrine. APS patients may develop autoimmune enteropathies and other intestinal dysfunctions.Aim: We describe a case of eosinophilic ascites in a nine-year-old girl with APS.<p c...

Background: Two siblings of non-consanguineous parents presented with FGD, demonstrated by ACTH resistance with glucocorticoid but not mineralocorticoid deficiency. The proband presented at 21 months, unresponsive with hypoglycaemia (BGL 1.5 mmol/l). Endocrine evaluation subsequent to resuscitation indicated adrenal insufficiency with elevated ACTH. Hydrocortisone therapy was commenced. A sibling, 4 years younger than the proband had a short Synacthen test (SST) performed on d...

Background: Differential diagnosis between XY partial (PGD) and mixed gonadal dysgenesis (MGD) was initially established by histological evaluation; however, when there is a 45,X lineage there are differences not only in clinical aspects but also in prognosis.Objective and hypotheses: The aim of this work was to analyze clinical picture of patients with genital ambiguity due to testicular dysgenesis, with and without a 45,X lineage, and compare these con...

In the typical developing gonad, cells with XY chromosomes become masculinised into Sertoli cells, leading to the development of the bipotential gonad into testes. Disruptions to sex determining genes and transcription factors, or XX chromosome complement, typically leads to failure of Sertoli cell development. In the study of sex determination, upregulation of specific genes in animal models has sucessfully led to male factor expression in XX cells in some animals but not in ...

Aim of our study was to assess clinical characteristics and complementary studies, in patients who consulted the Endocrinology Department of our pediatric hospital, referred by pediatricians to discard precocious puberty.Methodology: it is a descriptive study based on review of medical records, with first consultation between 2010 and 2018. Criteria were developed to assign patients to one of six diagnostic categories based on age, growt...

GLI2 is a downstream transcription factor in Sonic Hedgehog signaling, acting early in ventral forebrain and pituitary development. Heterozygous GLI2 mutations have been reported in patients with isolated or combined pituitary hormone deficiency (CPHD).Objective: Study of genetic etiology of the hypopituitarism and identification of the genetic alteration in GLI2 gene.Methodology: Molecular study: Search for varia...

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

Context: Disorders of sexual development (DSD) are those medical conditions with abnormalities of sex chromosomes, gonads, internal ducts or external genitalia. Sex determination and differentiation is a process under genetic control, only partially explained. Genetic testing and identification of a cause in DSD is essential for a precise diagnosis and correct management and also has an important psychosocial motivation.Aim: To make a genomic analyse, us...