ESPE Abstracts

Keywords: Syndromic Obesity, Child, GeneticsObjective: Syndromic obesity is accompanied by dysmorphic findings, motor and mental retardation, and organ anomalies. In this study, we aimed to evaluate the patients who were followed up with a diagnosis of syndromic obesity in our clinic.Materials and Methods: Demographic, clinical, and biochemical data of the patients followed up betwee...

Purpose: The aim of the present study was to determine the efficiency of three different predictive models [Bayley-Pinneau (BP), Roche-Wainer-Thissen (RWT), and Tanner-Whitehouse 2 (TW2)] by comparing their predictions with near-adult height (NAH) data of girls who received gonadotropin-releasing hormone agonist (GnRHa) therapy.Methods: Clinical findings were retrospectively analyzed. Bone age (BA) was determined by thre...

Introduction: Gonadectomy may be indicated in people with differences or disorders of sex development (DSD). Based on historical data from the International-DSD (I-DSD) Registry that showed considerable practice variation, this I-DSD care quality improvement project seeks to determine, through prospective surveillance, the frequency of gonadectomy in individuals with DSD internationally.Methods: All existing I-DSD centre...

Background: Turner syndrome (TS) is associated with short stature, hypogonadism, autoimmune diseases and metabolic conditions. Genome-wide changes in TS affect both transcriptome and methylome. Genomic studies have primarily focused on 45,X, but only 35-45% of the TS population has 45,X, while the remaining TS have other karyotypes.Methods: We used 5 study cohorts. A “genomic cohort” of TS with 45,X karyotype...

Background: Being able to induce puberty through a short course of low-dose testosterone therapy in boys with constitutional delay of growth and puberty (CDGP) indicates a crucial interaction between testosterone and androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at the onset of puberty. Previous studies have indicated an inverse association between the CAG repeat length and the transactivation function o...

Introduction: The clinical spectrum of nonfunctioning pituitary adenomas (NFPA), which are rare in childhood, varies from asymptomatic to hypopituitarism and/or severe compression-associated symptoms. We present the diagnosis, follow-up, and treatment of pediatric NFPA cases evaluated in a pituitary referral center.Methods: Data of patients aged <18 years and diagnosed with NFPA between 2002 and 2024 were reviewed ret...

Introduction: Loss-of-function mutations in the arylhydrocarbon-interacting protein (AIP) gene contribute to familial isolated pituitary adenomas, particularly growth hormone (GH)-secreting adenomas. This report presents a case of gigantism in a patient with a GH-secreting macroadenoma and an identified AIP mutation.Case Presentation: A 15-year-old male presented with complaints of excessive he...

Background: Since growth patterns change with time due to secular changes, there is a need to regularly update growth references1. We developed the first continuous birth size reference, from gestational age 24weeks with infancy growth references2, computerized 2006 and used in Swedish health care settings and neonatal units. We now aimed to update this reference by exchanging GrowUp1974Gothenburg cohort to a selected population of health...

Background: Leptin is considered to play an important role in the development of hypertension in obesity. The excessive synthesis of aldosterone contributes to the development and progression of metabolic and cardiovascular dysfunctions. Leptin is a newly described regulator of aldosterone synthesis that acts directly on adrenal glomerulosa cells to increase CYP11B2 expression and enhance aldosterone production in human adrenal cells lines and in animal models.<p class="ab...

Background: Pseudohypoaldosteronism (PHA) is a disorder caused by aldosterone resistance with impaired sodium reabsorption and potassium excretion from the body. PHA is subdivided into primary (genetic) and secondary (transient) forms. Primary PHA is caused by mutations in genes encoding epithelial sodium channel or mineralocorticoid receptors. The secondary PHA may occur due to urinary tract malformations, urinary tract infections (UTI), drugs, etc. We present here two cases ...