ESPE Abstracts

Context: Some of the features of subjects with Prader-Willi syndrome (PWS) resemble those seen in subjects with growth hormone deficiency (GHD). Children with PWS are treated with long-term growth hormone (GH), which has substantially changed their phenotype. Currently, young adults with PWS have to stop GH treatment after attainment of adult height when they do not have adult GHD. Limited information is available about the prevalence of adult GHD in patients with PWS.<p c...

Objective and hypotheses: The purpose of this research is to establish reference intervals for the steroid hormones of 6 to14 year-old normal male children using LC-MS method; study the variation pattern of steroid hormones in terms of different ages and Tanner stages of puberty.Method: A total of 1175 male children from 6 to 14 years old from Shunyi District, Beijing, have participated in this research, with 820 children determined as normal-weight. Pre...

Background: Patients with osteogenesis imperfect (OI) present with various degrees of short stature and nutritional disorders.Objective and hypotheses: To evaluate anthropometric and nutritional parameters in OI children and their variability among various types.Methods: Eighty-four patients with OI (types I, II, and IV) were subjected to the following anthropometric measurements: standing height (Ht), sitting height (SH), arm span...

Background: Growth hormone (GH) replacement as daily s.c. injections for patients with adults with GH deficiency (AGHD) can be cumbersome. Somapacitan (Novo Nordisk), a once-weekly reversible albumin-binding GH derivative, has been shown in short-term trials to be well tolerated in healthy adults and in patients with AGHD.Objective and hypotheses: This trial was a multinational, multicentre, randomised (2:1), open-label, active-controlle...

Background: Collodion babies (CBs) are an inherited group of diseases characterized clinically by diffuses severely dry and scaling skin. Patients are generally born prematurely and/or small for gestational age (SGA). Congenital hypothyroidism is seen together with various congenital anomalies, although the mechanism involved is still unclear.Objective and hypotheses: To identify endocrinological problems, and particularly those concerning growth, in 42 ...

Iodide (I−) transport defect (ITD) is an autosomal recessive disorder caused by the inability of the thyroid follicular cell to actively accumulate iodide. Active I− accumulation is mediated by the Na+/I− symporter (NIS), an integral plasma membrane glycoprotein located on the basolateral surface of thyrocytes. The diagnostic criteria for ITD include a variable degree of hypothyroidism and goiter, low to absent thyr...

In the light of technologic advances in prenatal testing, more genetic information about the fetus will become available, some of which may have uncertain clinical significance. In the light of all new genetic diagnosing technologies, professional guidance of patients to reliable, tailored, and accurate information is essential. In this presentation I analyze and discuss the various aspects of parental attitudes and dilemmas, as well as professional opinions about the benefits...

Background: Classically adrenal insufficiency presents with hyponatraemia and hyperkalaemia, however the differential may be of alternative origin. Atopic dermatitis is a common inflammatory skin disease of infancy and childhood. In severe cases, the exudation from wet lesions can produce serious complications such as infection+very rarely electrolytes abnormalities as seen in this case.Case report: A 6-month-old female infant was referred for endocrine ...

Background: GH transduction defect (GHTD) is characterised by severe short stature and impaired STAT3 phosphorylation, which is overcome by simultaneous induction of GHTD fibroblasts with 200 ng/ml GH and short interference mRNA CIS (GH200/siRNA) or with 1 000 ng/ml GH (GH1000) and is clinically expressed with ‘catch-up’ growth after rhGH treatment.Objective and hypotheses: The involvement of epidermal growth factor receptor (EGFR) in the succe...

Objective: Puberty has a significant contribution to different psychosocial wellbeing aspects. Hence; it is crucial to understand the normal variations in onset and tempo of puberty in a specific population. In this study, we aimed to provide normative data on timing of onset of puberty and age of menarche in Saudi schoolgirls in RiyadhMethods: This is a cross-sectional field study (2011-2013) including Saudi schoolgirls...