ESPE Abstracts

Background: There is a clear need for improved patient-centric approaches in the treatment of chronic conditions, including paediatric growth hormone deficiency (GHD). Greater understanding of the patient’s treatment journey has the potential to inform clinical decisions and to improve clinical- and patient-reported outcomes. Connected Health (CH) combines state-of-the-art technologies, tools, methodologies and analytics to create new patient-centric hea...

Background: A decrease in random LH concentration is observed after initiation of treatment for central precocious puberty (CPP), but the suitability of random LH concentrations for assessing efficacy is controversial. Although Neely et al. reported that random LH values frequently fail to demonstrate suppression to prepubertal levels,1 Lee et al. demonstrated that a cutoff of random LH <0.6 IU/l may be adequate for monitoring s...

Background: Neoplastic causes of precocious puberty include brain, gonadal, adrenal and germ cell tumors; hepatoblastoma (HB) is only rarely noted [1,2]. HB, is a rare primary hepatic tumor of childhood [3]. It is accompanied by raised levels of alpha-fetoprotein (α-FP). Rarely, beta-human chorionic gonadotropin (β-hCG) levels are elevated, resulting in peripheral precocious puberty (PPP).Clinical Case: We pre...

Childhood onset of growth hormone deficiency (GHD) is a clinically heterogeneous condition and defining its cause is important for diagnostics and treatment. The most common genes implicated in the genetic etiology of growth hormone deficiency (GHD) are GH1 (MIM: 139250), encoding growth hormone (GH), and GHRHR (MIM: 139191), encoding the receptor for GHRH. GHD may also result from mutations in genes that encode transcription factors involved in pituitary dev...

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

Purpose: Patients with growth hormone deficiency (GHD) show low fitness levels before GH treatment is started. Muscular strength, flexibility and postural stability are related to health and quality of life. Since it is widely recognized that physical activity increases GH secretion and GH could ameliorate fitness, if a high adherence to treatment is documented (1), the purpose of this study is to investigate any difference on posturographic parameters and mus...

Background: Patients with congenital IGHD or MPHD develop adiposity already "in utero". The effects of growth hormone (GH) treatment on adipose tissue are controversial, many claiming that GH reduces body fat (1.2). In addition there are reports that long-term GH treatment causes glucose intolerance, insulin resistance, followed in some instances by diabetes (3).Objective: To determine whether long-term hGH treat...

A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-4). Human POR is a diflavin reductase that transfers electrons from NADPH to small molecules, non-P450 redox partners and cytochrome P450 proteins in the endoplasmic reticulum. Cytochrome P450 proteins perform a very wide range of reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic ...

KBG syndrome (OMIM 148050) is a an emerging autosomal dominant disorder caused by heterozygous mutations in the ANKRD11 gene or deletions of 16q24.3, characterized by developmental delay, short stature, dysmorphic facial features and skeletal anomalies. Patients and methods: We report 22 patients with dysmorphic features, learning disabilities, behavior problems and macrodontia, where a clinical diagnosis of KBG was suspected. An ANKRD11 defect was confirmed in 12 patients. In...

The patient was referred to our Centre for short stature. Weight and length at birth were within normal limits. In the neonatal period he showed jaundice and hypoglycemia. A reduced growth velocity was reported from the age of six months. At 15 months his length was 70 cm (−3.75 SDS), his weight 8.1 kg (−2.26 SDS). Parental target height was 167.6 cm (−1.38 SDS). He had normal psychomotor development. The examination showed macrocrania and nasal voice. Blood ...