ESPE Abstracts

Background: Classical salt wasting congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare disorder, as is isolated growth hormone (GH) deficiency Type II (IGHD II) due to mutation of the growth hormone gene GH1. Here we describe the unusual case of a girl with concurrent 21OHD and IGHD II and its complex diagnostic work up. A 15.3-year-old girl presented with classical salt wasting CAH due to 21OHD and short stature (height 148...

Congenital hypopituitarism (CH) is a highly variable disorder affecting 1:3000 - 1:4000 live births, and is characterized by deficiencies in one or more of the 7 pituitary hormones, with growth hormone (GH) being the most frequently-occurring deficiency. It may be associated with a range of syndromic features including visual impairment, midline brain abnormalities and facial clefting. The development of the pituitary gland is closely associated with that of the forebrain and ...

Introduction: Chronic non-bacterial osteomyelitis (CNO) is a sterile inflammatory disease of the skeleton characterized by local pain and swelling. If first line treatment (non-steroidal anti-inflammatory drugs) fails, bisphosphonates are recommended. There are no randomized controlled studies so far that would clarify the zoledronate efficiency, and also no study systematically exploring the effect on bone mineral density (BMD)....

Polycystic ovary syndrome is the most common cause of hirsutism and menstrual irregularity in adolescent girls and young women. It is often accompanied by obesity and insulin resistance and is associated to lifelong co-morbidities, including subfertility, type 2 diabetes, non-alcoholic fatty liver disease, pre-menopausal cancer, depression, low health-related Qol, and pregnancy and offspring complications. PCOS in adolescent girls is commonly driven by fat excess in subcutaneo...

Background: To construct the growth curves of body length and weight for Chinese patients from birth to 3 years with salt-wasting 21-hydroxylase deficiency (SW 21-OHD), changes in body mass index (BMI) will also be described, so as to explore the growth pattern of these special patients and guide the monitoring of early growth.Methods: The body length and weight data of SW 21-OHD patients aged 0-3 years who visited in 4 ...

Introduction: Breast milk is a perfect food, but it can be deficient in vitamin D. In the Danish study, vitamin D was correlated in mothers, breast milk and not in breast milk and infants. We investigated the correlation between mother, breast milk, and infants vitamin D levels in Japan.Materials and Methods: This study included 84 pairs of mothers and 2-week-old infants born at the Iizuka Hospital and Vitamin D includin...

Introduction: NDM is a monogenic form of diabetes that occurs in the first 6 months of life. NDM is a rare condition accounting for up to 1 in 400,000 infants in the United States. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3. Of these, imprinting defects on chromosome 6q24 and the KCNJ11 mutation have been recognized as the maj...

The increasing prevalence of obesity and associated comorbidities worldwide is a major problem for national health care systems. For this reason, it is of importance to gain knew knowledge about the central regulation of body weight and to identify factors which are leading to an increased individual risk to gain weight. Despite large genome weight associations studies and related genetic risk scores, the regulation of inter-individual body weight variability remains elusive. ...

Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height as well as psychological consequences. So far only a limited number of genetic determinants have been associated with the pathogenesis in children with CPP. In this original research, rare sequence variants in MKRN3, DLK1, KISS1, and KISS1R genes were i...

Pulmonary carcinoid tumors represent well-differentiated pulmonary neuroendocrine tumors, which include typical and atypical carcinoids. This type of lung tumors is rare, but represents the most common primary malignant lung tumor in children and adolescents, especially the typical carcinoids. They can be asymptomatic at the time of diagnosis or can present with nonspecific findings like recurrent pneumonia, cough, and hemoptysis. We report the case of a 15-year-old girl reffe...