ESPE Abstracts

Background: Premature adrenarche (PA) has been considered a benign condition. Recently, associations with an increased metabolic risk have arisen. This risk may depend on ethnic background and infancy weight gain, which could be different by gender.Objective and hypotheses: To determine whether PA in children at pubertal onset (TII) determines a higher metabolic profile.Methods: 1190 children (49.9% female) from the longitudinal co...

Background: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD.Objective and hypotheses: We describe a 14 years old boy who was referred for investigation of short stature.Methods and Results: Short stature, convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8....

Background: The WDR11 gene was recently involved in the pathogenesis of isolated hypogonadotropic hypogonadism (IHH). In 2010, Kim et al. (1) identified five different heterozygous missense WDR11 rare variants in six of 201 IHH patients (five normosmic IHH and one Kallmann syndrome), which were absent in more than 400 controls. Animal studies demonstrated that WDR11 interacts with EMX1, a homeodomain transcription factor involved in the development of olfacto...

Background: Pediatric Cushings syndrome is a rare condition and its diagnosis is always a challenge to the clinicians. The hypercortisolism can be classified as ACTH-dependent (Cushings disease) and ACTH-independent. The latter group comprises several hereditary conditions. One of them is primary pigmented nodular adrenocortical disease (PPNAD) which occurs isolated or as part of Carney complex (CNC). It is known that adult patients with Cushings syndrome due PPNAD exhibited a...

Background: Aortic dilation (AD) occurs in Turner syndrome (TS) increasing the risk of aortic dissection at all ages. There are no current guidelines on what specific aortic diameter measurement should provoke concern in pediatric TS. Because of their small stature, an aortic size index (ASI) has been proposed to normalize the ascending aorta (AA) to body size in young adults’ with TS. However, a more reliable index has been also proposed: the ratio of vascular diameter t...

Background: The detection of hyperglycemia on occasional evaluation raises the diagnosis of diabetes mellitus (DM). Maturity onset diabetes of the young (MODY), namely glucokinase deficiency, should be considered in cases of non-progressive hyperglycemia associated with a positive family history.Objective and hypotheses: We describe two unrelated cases of asymptomatic hyperglycemia where glucokinase mutations were detected.Method: ...

Background: Epidemiologic studies have documented that sleep duration is associated with obesity risk children’s.Objectives: To investigate sleep duration of 4-year-old children (h/day) and to evaluate the association of sleep patterns with weight status at 4 years.Methods: 393 children from the INMA birth cohort of Asturias (Spain). We analysed sleep duration (h/day) during the night and afternoon nap, reported by their paren...

Background: The pituitary set-point for TSH synthesis and secretion is known to be an individual parameter with a strong genetic influence. Type II iodothyronine deiodinase is a pituitary enzyme involved in local deiodination of T4 and negative feed-back loop for TSH secretion. Defects in DIO2 have not been reported in humans; however, Dio2 knockout mouse has pituitary resistance to T4 with elevated TSH, T4 and TSH/T4 ratio, with nor...

Background: Type 1 diabetes mellitus has three common presentations: Typical (hyperglycaemia with cardinal symptoms), ketoacidosis and asymptomatic hyperglycaemia.Case presentation: A 7.5-year-old girl with a history of bronchial asthma presented to the emergency department with acute-onset diabetic symptoms. The previous year she was admitted to the Paediatric Ward for a pneumonia complicated by pleural effusion. She then developed hyperglycemia (400 mg...

Results: During the years of this study, the prevalence of NB reported as suspected with CH was 1:1220 NB, showing a stable trend on the linear tendency analysis; when adjusted for cases with confirmed high values of TSH in umbilical cord measurement, the prevalence is 1:3041 NB. Regarding the demographic data of the patients analyzed, it was found 54% were men and 46% women. Of the total CH cases with a reported weight, 20% weighted less ...