ESPE Abstracts

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...

Norditropin® was approved for children with short stature due to NS in Japan in 2017. The aim of this post-marketing surveillance study was to evaluate long-term safety and effectiveness of Norditropin® for the approved indication. This real-world non-interventional study (NCT03435627) was conducted February 2018–January 2022. Seventy patients enrolled: 35 received Norditropin® after study initiation (new patients); 35 were previously ra...

Introduction: Subclinical hypothyroidism (SH) is a biochemical condition characterized by serum levels of TSH above the reference range upper limit (4,5μUI/mL), with normal concentrations of thyroid hormones. In cases of non-autoimmune subclinical hypothyroidism (NASHT), genetic defects have been described and can determine disorders in the biosynthesis process of thyroid hormones, such as heterozygous mutations in the TSH receptor gene (TSHR) and ...

Background: Extra Uterine Growth Restriction (EUGR) represents a serious comorbidity in infants born very low birth weight (VLBW). In fact, failure in postnatal growth and malnutrition at vulnerable ages can interfere with growth recovery and neurodevelopment at older ages.Hypothesis: Aim of the study was to assess whether and how the postnatal early growth patterns of VLBW may affect later growth, spontaneous motility a...

Background: Children born small-for-gestational age (SGA), especially those who experience spontaneous postnatal catch-up growth, are at increased risk for developing insulin resistance, central adiposity and cardiovascular abnormalities later in life. By age 3-6 years, SGA children have a broader aortic and carotid intima media thickness (aIMT and cIMT) which are markers of preclinical atherosclerosis.Objective: To assess longitudinally – at age 12...

Background: Despite the multiple endocrine, cardiovascular, and gastroenterologic problems of patients with Williams-Beuren Syndrome (WBS), Studies considering metabolism and bone quality in WBS are almost entirely absent from the literature.Objective and hypotheses: We evaluate bone mineral status and metabolism in a cohort of patients with WBS.Method: Thirty-one children (15 females, 16 male...

Background: Progranulin (PGRN) displays pleiotropic biological functions including on early embryogenesis, cell proliferation, lysosomal or neuronal functioning and wound repair, and has been proposed as a biomarker for metabolic diseases. Increased PGRN levels have been reported in type 2 diabetes, nonalcoholic fatty liver disease and in preeclampsia associated to placental dysfunction. However, the ontogeny of PGRN concentrations and the potential value of P...

Introduction: Kisspeptin stimulates the gonadotropin releasing hormone (GnRH) neurons in hypothalamus initiating puberty. However, it is not known whether GnRH inhibits kisspeptin secretion by negative feedback and whether there are any associations between circulating levels of kisspeptin and other hormones, like ghrelin, important for the onset of puberty.Methods: Thirteen girls with suspected central precocious pubert...

Background: Papillary thyroid cancer has been described in three patients with Turner syndrome (TS) who received growth hormone therapy (Cabanas P, 2005; Bautembach-Minkowska J, 2018). We are presenting a case of papillary thyroid cancer in a girl with a late-diagnosed Turner syndrome who has not received any hormonal therapy up to 17 years.Clinical case: A girl was diagnosed with TS syndrome (karyotype 45XO/46X i(X)q) a...

Aim: To study the incidence of childhood thyrotoxicosis in five counties in central Sweden during 1990–2009 and to study the treatment outcome.Methods: Children below the age of 16 years diagnosed with thyrotoxicosis during the 20-years period and living in the study area were identified retrospectively. Data on the total number of children below 16 years of age living in the area during the study period was collected from the National Board of Stat...