ESPE Abstracts

Failure to thrive is a term used to describe inadequate growth or the inability to maintain growth, which usually occurs in early childhood. Case report: female patient, 7 months old, referred to the pediatric clinic of Hospital de Clínicas de Porto Alegre due to a possible syndromic condition. He had no diagnosed comorbidity to date and was using only prophylactic ferrous sulfate and vitamin D. No family history of similar illness. Physical examination showed hypertric...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Background: In Brazil, specially in the south, there is a high prevalence of p53 mutations – 1:300 compared to 1:5000-1:20000 incidence worldwide. (1) As a consequence, adrenocortical carcinoma as a cause of virilization in children is much more common in our practice.Clinical Case: M.P.O., a 32-month-old girl, was referred to our institution - Hospital de Clínicas de Porto Alegre - in May 2022 due to progre...

Background: Clitoromegaly usually is a sign of virilization, and should lead to prompt evaluation in order to allow adequate treatment. Neurofibromatosis (NF) is a syndrome characterized by pigmentary changes, development of benign tumors of peripheral nerve and increased risk of other malignant tumors.Clinical Case: A five year old female patient was referred to the pediatric clinic of Hospital de Clínicas de Por...

Pediatric severe obesity is a major threat to health and longevity. Around 7% of children worldwide have early onset severe obesity before the age of 7. Pediatric obesity is caused by an interplay of multiple factors: lifestyle, environmental, sociocultural, psychological, biological and genetic factors. Endocrine, monogenetic or syndromal causes are rare, but currently underdiagnosed and important to identify for the need of specific treatment. Cardiovascular risk factors and...

This presentation briefly gives an overview of typical gynaecological issues and fertility options of transgender adolescents.Typical gynaecological complaints and treatment options will be addressed: e.g. amenorrhea induction prior to cross-sex hormones, irregular bleeding, dysmenorrhea, vaginal discharge but also the limitations of gynaecological examination in female asssigned adolescents.National and international organizations...

Central hypothyroidism can be best defined as lower than desirable thyroid hormone production and secretion because of insufficient stimulation of a normal thyroid gland by a defective pituitary or hypothalamus, resulting in a too low plasma or serum (free) thyroxine (FT4) concentration accompanied by a more or less normal thyrotropin (TSH) concentration. Central hypothyroidism can occur isolated or as part of multiple pituitary hormone deficiency and can be a congenital or ac...

Central hypothyroidism (CeH) can be defined as a lower than desirable secretion of thyroid hormone by a normal thyroid gland resulting from (quantitative or qualitative) insufficient TSH secretion. Causes are congenital and acquired functional or anatomic defects of the hypothalamus, pituitary gland or both. CeH can be difficult to diagnose, especially in children without a history of brain defects or brain damaging treatment (e.g. irradiation), and when plasma FT4 concentrati...

The aim of this presentation is to give an overview of motor disabilities in girls with Turner syndrome (TS), the impact on daily life and suggestions for treatment.Girls with TS show substantially lower performance in gross and fine motor function tests and motor milestones are achieved relatively late. Moreover, girls with TS frequently encounter problems in specific motor functioning i.e. oral-motor and visual-motor coordination, motor learning and pr...

Background/ Aim: Over the past 6 years, the IGF1/ IGFBP3 generation test (IGFGT) has been used in Belgium in a standardized form to identify children with severe primary IGF1 deficiency (SPIGFD). In this study, the discordance of the IGF1 and IGFBP3 responses during an IGFGT and the prevalence of SPIGFD were analyzed in a cohort of children with short stature (height SDS < - 2) and presenting with low (below lower reference limit) serum IGF1 level and norma...