ESPE Abstracts

Background: Growth hormone treatment (GH) in children with PWS results in an improvement in height velocity, body composition and mental and motor development. Discontinuation of GH after attainment of adult height (AH) leads to a decrease in lean body mass and an increase in body fat percentage, which results in an increased risk of impaired glucose tolerance (IGT) and diabetes mellitus type 2 (DM2). Studies in adults with PWS suggest positive effects of GH, but GH is known t...

Background: Congenital isolated adrenocorticotrophic hormone (ACTH) deficiency (IAD) is a rare condition. It is characterized by low plasma and cortisol levels and preservation of all other pituitary hormones (2 cases described with transient partial growth hormone deficiency). The principal molecular cause is identified as TPIT mutation. We present here the case of a neonate with TPIT mutation and ACTH deficiency associated with probable growth hormone and thyrotropin deficie...

Background: Rathke’s cleft cysts (RCC) are benign, epithelial lined cystic remnants of the craniopharyngeal duct, and are a common radiological differential for lesions involving the sellar and sellar/suprasellar region. RCC are not very common in children.Objective and hypotheses: To investigate the clinical characteristics of RCC in children.Method: A retrospective analysis was conducted in 24 patients with RCCs diagnosed be...

Background: Twenty-three national healthcare networks for rare diseases were identified in 2014 as part of the French scheme on rare diseases. The rare endocrine disease national healthcare network FIRENDO (www.firendo.fr) includes six centers of reference with complementary fields of expertise certified between 2005 and 2006, 30 centers of competence covering all French regions, 18 research and 37 diagnostic laboratories, 5 national learned...

Background: Turner syndrome (TS) is a genetic disorder caused by X chromosome monosomy (45,X0) or partial absence of the second sex chromosome, with or without mosaicism. An increased frequency of autoimmune diseases and metabolic disorders has been observed in Turner patients.Objective: To compare Turner monosomy to the other X chromosome abnormalities with regards to occurrence of autoimmune diseases and metabolic disorders.Metho...

Background: Children with neurofibromatosis type 1 (NF1) have an increased risk of developing optic pathway gliomas (OPGs) during childhood. Although these tumors usually have a benign course, some cases result in significant clinical symptoms, including endocrinological disorders.Objective and hypotheses: The aim of this study is to evaluate the endocrinological complications of OPGs involving the chiasm in children with NF1.Metho...

Background: NSIAD is a rare genetic cause of hyponatremia, due to activating mutations in AVPR2 gene, encoding the Arginine Vasopressin Receptor Type 2, and located on Xq28. Of the fewer than 30 reported cases, most have been managed with fluid restriction and urea.Objective and hypotheses: Illustration of the presentation of a family with this genetic abnormality and approach to management.Method: The clinical, biochemical and gen...

Background: Cholesterol levels are variable throughout childhood and adolescence. The attention not only to conventional lipid profiles but also to non-high-density lipoprotein cholesterol (non-HDL-C) and triglyceride to HDL-C ratio (TG/HDL-C ratio) are becoming more apparent in pediatric lipid studies because of their clinical importance.Objective and hypotheses: The aim of the present study was to establish age- and gender-specific reference values for...

Background: Cancer cells have a high NAD turnover rate due to their increased cell proliferation and DNA repair. Nicotinamide phosphoribosyltransferase (NAMPT) is the key enzyme of the NAD salvage pathway, a regulator of the intracellular NAD pool and of the activity of Sirtuins (SIRTs), a class of NAD-dependent deacetylases.Objective and hypotheses: Cancer cells are highly dependent on NAD and are expected to be more susceptible to an inhibition of NAD ...

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 ...

Background: CHARGE syndrome is a complex of congenital malformations affecting multiple organ systems caused by mutations in CHD7.Objective and hypotheses: This study was performed to evaluate endocrine dysfunctions including hypogonadotropic hypogonadism, growth hormone deficiency, or hypothyroidism in patients with CHARGE syndrome.Method: Eighteen patients (10 males and 8 females) with CHARGE syndrome were included. A di...

Background: Childhood acute lymphoblastic leukemia (ALL) survivors are at increased risk for endocrine late effects.Objective and hypotheses: To evaluate growth and pubertal patterns in patients diagnosed with childhood ALL and to identify risk factors for impaired growth and puberty.Method: Retrospective chart review with longitudinal assessment of anthropometric measurements and pubertal status of 183 childhood ALL survivors diag...

Background: Bartter syndrome (BS) and Gitelman syndrome (GS) have similar clinical manifestations. It’s hard to be distinguished by the symptoms and laboratory, even though the genetic analysis cannot identify them precisely. The precise diagnoses associate with the right treatment and prognosis. Hypercalciuria usually involved with neonate type Bartter syndrome, and hypomagnesemia with Gitelman syndrome.Objective a...

Background: Wolfram syndrome is an autosomal recessive disorder accompanied by diabetes insipidus, diabetes mellitus, optic atrophy and deafness. Mutations in the WFS1 gene are determined in 90% of cases. We present the clinical features of three cases of Wolfram syndrome.Objective and hypotheses: Case 1: A 14-year-old girl presented with loss of vision. At the age of 3 years she had been diagnosed with type 1 diabetes mellitus with a bl...

Background: The association between primary hypoparathyroidism and celiac disease (CD) is uncommon in paediatrics, even more if they are not part of an autoimmune polyglandular syndrome (APS, almost exclusively type II). We describe a case of autoimmune hypoparathyroidism coexisting with celiac malabsorption.Objective and hypotheses: Valentina was a 7 year old female child when she was admitted in hospital because she had generalized seizures at home. Sh...

Background: β-thalassemia is the most common single gene disorder worldwide, in which hemoglobin β-chain production is decreased. Today, the life expectancy of thalassemic patients is increased because of a variety of treatment methods. However, osteoporosis and cardiac dysfunction remain frequent complications.Objective and hypotheses: The aim of the study, was to analyze the diagnostic and prognostic role of ferritin for endocrinopathies and ...

Background: The estimated prevalence of beta thalassemia is 3–8% in India, Pakistan, Bangladesh and China. The combination of regular blood transfusions and chelation therapy has dramatically increased the life expectancy of thalassemics, but it has led to iron overload and chelation toxicity, with many complications including – growth failure, gonadal dysfunction, hypothyroidism, hypoparathyroidism, DM, etc.Objective and hypotheses: To study t...

Background: Autoimmune polyglandular syndromes (APS) is a group of heterogeneous conditions characterized by the association of at least two organ-specific disorders, concerning both endocrine and non-endocrine organs. On the basis of the clinical features, they are divided into four main types. Type III is defined as the combination of autoimmune thyroid disease and other autoimmune condition – divided into subtypes A, B and C.Objective and hypothe...

Introduction: Neurodevelopmental disability (NDD) is a common problem in children health, occurring in 5–10% of the pediatric population.Aim: To evaluate the endocrine and metabolic complications described in patients with NDD.Material and method: Children with NDD, aged below 9 years old, admitted to 1st Pediatric Clinic of Children Emergency Hospital, Timişoara, România, between January 2014-March 2016 w...

Background: Approximately 20–50% of children rescued from malignancy will develop at least one endocrine disorder into adulthood. With regard to the role of endocrine disorders on the quality of life in children rescued from malignancy, the aim of this study was to evaluate the prevalence of endocrine complications in survivors of childhood cancer.Method: A cross sectional study was done on 72 survivors of childhood cancer patients 2–18 years- ...

Background: Williams Syndrome (WS) is a multisystemic genetic syndrome, which includes characteristic appearance of “elfian face”, growth retardation, mild mental retardation, hypersociality, infantile hypercalcemia, and other endocrine, cardiovascular, and urinary abnormalities. WS is caused by the microdeletion of chromosome 7q11.23; it is usually sporadic but rare autosomal dominant familial cases have been reported in the literature. We present a boy and his moth...

Background: Multiple endocrine neoplasia (MEN)1 is a rare autosomal dominant disorder with primary hyperparathyroidism, enteropancreatic neuroendocrine tumors and anterior pituitary adenomas.Patient: A16-yr-old male was referred to our center due to recurrent seizures. Family history was significant for maternal death due to metastatic adenocarcinoma of the lung,paternal history of low-grade liposarcomas and nephrolitiasis. Physical examination was norma...