ESPE Abstracts

Introduction: Familial hypomagnesemia with secondary hypocalcemia is a rare autosomal recessive disease characterized by very low serum magnesium levels. It is caused by mutations in the gene encoding the transient receptor potential melastatin 6 (TRPM6). It typically occurs in the first months of life with symptoms of increased neuromuscular excitability such as convulsions, muscle spasms and tetany. Prolonged untreated hypomagnesemia may lead to developmenta...

DNA ligase IV (Lig 4) deficiency (MIM #606593) is a rare autosomal recessive disorder related with impaired DNA damage-response mechanisms. Lig 4 syndrome has a broad clinical presentation; microcephaly, facial abnormality, sensitivity to ionizing radiation, combined immunodeficiency, progressive bone marrow failure and predisposition to malignancy. We describe the patient with Lig4 syndrome presented lissencephaly, growth failure and hypogonadism. The patient is a 18-years-ol...

Background: Hematopoietic stem cell transplantation (HSCT) has become more common in treating malignant and nonmalignant diseases in children. However, HSCT is associated with several late effects that can impair growth, like insufficient growth hormone (GH) secretion, hypogonadism and growth plate damage. Growth hormone treatment (GHRx) is offered but limited data are available on its effect on adult height.Objective: To evaluate the effectiveness of GH...

Background: Insulin-like Growth Factor-1 (IGF-1) is an amino acid peptide produced under the effect of Growth Hormone (GH), mostly secreted by the liver, which stimulates bone growth. IGF-1 levels have high specificity and low sensitivity for the diagnosis of Growth Hormone Deficiency (GHD). Higher IGF-1 levels are classically associated with a better response to growth hormone therapy. The aim of this study was to investigate the correlation between serum IGF...

Purpose: Central precocious puberty (CPP) is less common in boys than girls; very little data is reported on long-term effects of gonadotropin-releasing hormone analog (GnRHa) treatment in boys with CPP. The aim of the study was to evaluate the impact of treatment with GnRHa on adult height (AH) and body mass index (BMI) in boys with idiopathic CPP.Subjects and Methods: In 18 boys with confirmed diagnosis of idiopathic C...

Background: Arterial hypertension (AH) is one of the most common and the earliest complications of childhood obesity. It is diagnosed on the basis of at least three results of the standard setting measurements of systolic (SBP) and diastolic (DBP) blood pressure. Nevertheless, some data suggest, that this diagnostic standard may be not sufficient for obese children, because some BP abnormalities, unique for these patients, (decrease of night dip, elevated SBP/DBP load) cannot ...

Background: Treatment with GH in children born small for gestational age (SGA) increases height velocity (HV) but data on adult height (AH) are scarce.Objective and hypotheses: To report AH in a group of SGA children treated with GH.Method: This is a post-marketing longitudinal analysis of SGA children treated with GH and included in France in KIGS. Selection criteria were children followed at least one year and having reached AH b...

Background and Aim: Adult height predictions by the manual Bayley and Pinneau (BP) method in tall boys have shown large confidence intervals up to a bone age of 15 years. The adult height (AH) BoneXpert prediction method, which is based on an automated bone age reading, has not been evaluated in tall adolescents. We therefore compared the bias between the manual BP method and the BoneXpert (BE) method in tall male Flemish adolescents.Pat...

Background: GH secretion is classically assessed by provocative tests and, indirectly, by IGF-1 serum levels. However, their diagnostic accuracy is low. The aim of the study was to evaluate the adult height (AH) in short patients with IGF-1 ≤-1,5 SDS.Method: 52 short patients (height-SDS -2.6 (-3.1- -2.3), age 12.2 (10.2-13.7) y, 36 boys), with low height velocity(HV)-SDS (-1.6 (-3.2- -0.9)) and IGF-1 ≤-1,5 SDS (-2...

Background: The Spanish Registry PUBERE was created (2007) with 53 hospitals.Objective and hypotheses: i) To determine the chronological age (CA) and bone (BA) at GnRH analogue withdrawal; ii) to analyze the age at menarche and time elapsed after stopping treatment; and iii) to know adult height data.Method: Patients with central precocious puberty (CPP) born after 1992, diagnosed before 8 years in girls, with BA/CA >1 year and...