ESPE Abstracts

Background: Mild isolated neonatal hyperthyrotropinaemia (HTT), defined as elevated thyroid stimulating hormone (TSH) with normal free thyroxine (FT4) concentrations, may be identified by newborn screening programmes for congenital hypothyroidism (CHT) or when neonatal thyroid function tests (TFTs) are performed for a clinical indication. Reported HTT incidence rates vary (from 0.001-0.1%)1. Case definition also varies, with some authors using a TSH...

Background: Pathogenic variants in the genes involved in the formation of thyroid tissue and thyroid hormone secretion have been reported to cause congenital hypothyroidism (CH) in some cases.Aim: This study aimed to evaluate the clinical and genetic findings of CH cases thought to be due to genetic variantsMethod: The study included cases whose genetic analysis was performed in ac...

Background: The integration of mobile health technology with a limited number of physical visits shows promising treatment outcomes, but long-term evidence is lacking. Additionally, concerns about eating disorders following obesity treatment are common among families and caregivers, although data on this matter are scarce for children and adolescents. This study evaluates three-year weight outcomes for patients using a digi-physical treatment tool and reviews ...

Background: Myo-inositol(MI)is a polyol involved in intracellular signaling pathways of insulin and MI has been used orally for therapeutic purposes in girls and adult women with polycystic ovary syndrome(PCOS)with variable success. As yet, serum MI levels have not been assessed in girls with PCOS.Aim: Our primary goal was to compare serum MI levels in girls with PCOS with those in healthy peers. Secondary goal was to in...

Background: Congenital diabetes insipidus (DI) can be due to mutations in the arginine vasopressin (AVP) gene (familial neurohypophyseal DI), the AVP receptor type 2 (AVPR2) or aquaporin 2 (AQP2) genes (congenital nephrogenic DI, NDI). The clinical manifestation of congenital NDI, especially the response to AVP, can vary greatly depending on the functional effect of the AVPR2 mutation. Here we present two male siblings with NDI and partial response to ddAVP.<p class="abste...

Introduction: Management of children with adrenal disorders such as congenital adrenal hyperplasia involves thorough clinical monitoring, including measurements of plasma renin concentrations (PRC) and ACTH. However, sex- and age-related reference intervals (RIs) for PRC and ACTH using novel immunoassays are needed.Aim: To evaluate circulating concentrations of renin and ACTH in children and adolescents from the general ...

Background: Hypophysitis is an uncommon inflammatory disorder of the pituitary gland and is classified both clinically (Primary vs secondary) and histologically (lymphocytic, granulomatous or xanthomatous). Primary hypophysitis is exceptionally rare in the paediatric population with only a few cases reported, the majority being Lymphocytic Hypophysitis.Case Report: We present the case of a previously healthy 14-year-old ...

Introduction: The Sonic Hedgehog (SHH) gene is involved in the development of midline structures. Pathogenic variantd in this gene have been associated to holoprosencenphaly 3; Microphthalmia with coloboma 5; Schizencephaly; and Single median maxillary central incisor syndrome (SMMCIS). All of them are inherited in an autosomal dominant pattern and exhibit incomplete penetrance as well as variable expressivity.Case Report:</stron...

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked and multisystem disorder with clinical symptoms of congenital cataracts, severe mental retardation, hypotonia, areflexia, and incomplete Fanconi syndrome of the proximal renal tubules. We report a 15-year-old short stature male with a severe form of OCRL syndrome, diagnosed based on bilateral congenital cataract, proteinuria, tubulopathy, and dysmorphic findings. The physical examination revealed a height of 152 cm (-2.7...

Introduction: Beta thalassemia major (βTM) is an autosomal recessive anemia characterized by a defect in the production of the β-globin chain of hemoglobin. There may be endocrine problems secondary to hemochromatosis in the clinical follow-up of the patients. Here, a case who was followed up with the diagnosis of βTM, consulted for primary amenorrhea and diagnosed with 5-alpha reductase deficiency (5ARD) is presented and clinical follow-up expe...