ESPE Abstracts

Introduction: Complete ALS deficiency (ALS-D), caused by inactivating mutations in both IGFALS gene alleles, presents severe IGF1 and IGFBP3 deficiencies associated to moderate growth retardation.Aim: To characterize the molecular defect in a family where the index case and his father presented short stature and IGF1 and IGFBP3 deficiencies.Methods: IGF1, IGFBP3, and GH serum levels were determined by CLIA, ALS by ELISA an...

Background: Mutations in the human GH receptor gene (GHR) are the most common cause of GH insensitivity (GHI) syndrome and IGF1 deficiency. The extracellular domain of GHR (encoded by exons 2–7 of the GHR gene) can be proteolytically cleaved to circulate as GH-binding protein.Objective: To evaluate the cause of classical GHI (Laron) phenotypes in two siblings and their parents.Method: We observed clinical characteristics of tw...

Objectives: Vitamin D deficiency is an important health problem in pregnant women and their infants in sunny countries. The present study evaluated serum 25-hydroxyvitamin D3 (25(OH)D3) concentrations in pregnant women and in their newborns and determined the risk factors in LSES cities in Turkey.Methods: Ninety-seven pregnant women and their newborns were included in the study between December 2012 and February 2013. All of the pregnant women had irregu...

Background: A 5 years and 10 months boy presented with pubic hair, recent penile growth, aggressive behaviour and rapid growth of height. Antenatal, perinatal, and developmental history was unremarkable. There was no family history of precocious puberty. His height and weight were 128 cm (2.24 S.D.) and 25 kg (1.55 S.D.) respectively. Vital signs were normal. He was Tanner 2 for pubic hair and his stretched penis length was 11 cm, right testis vol...

Background: Swyer syndrome (46,XY pure gonadal dysgenesis) is a rare disorder, which is characterized by female phenotype, female internal genitalia and fibrotic and primitive gonads. Classically, breast development and menstruation are absent due to hypergonadotropic hypogonadism.Objective and hypotheses: To our knowledge, three cases of Swyer syndrome with spontaneous breast development have been reported so far. In these reports, breast development wa...

Background: The serum 25-hydroxyvitamin D (25OHD) levels are known to be lower in obese children, probably due to sequestration of vitamin D in the adipose tissue. However, there is no consensus on the dose adjustment for vitamin D supplementation in obese children with vitamin D deficiency (VDD).Aims: To compare the response to vitamin D replacement in normal weight vs overweight children with VDD, and to investigate the determinant for increment of 25O...

Background: We previously reported that children with an earlier adiposity rebound (AR), which is defined as the time at which the BMI starts to rise after infancy, have a higher BMI and a greater atherogenic metabolic status at age 12. In addition, it has been reported that higher levels of leptin at age 3 is associated with greater weight gain and adiposity by age 7. This finding suggests that leptin resistance may begin in early childhood, even before age 3.<p class="ab...

Background: Nesfatin-1, a recently discovered anorexigenic neuropeptide, seems to play an important role in hypothalamic pathways regulating food intake and energy homeostasis.Objective and hypotheses: The aim of this study is to evaluate the relation of serum nesfatin-1 level with anthropometric and metabolic parameters in children and adolescents.Method: This study included 78 Korean children and adolescents (42 obese/overweight ...

Background: Pseudohypoaldosteronism type 1 (PHA1) is a rare disease which is characterised by hyponatremia, hyperkalemia, metabolic acidosis and elevated levels of aldosterone and renin. Aldosterone resistance is caused either by a mutation of the mineralocorticoid receptor gene or the epithelial sodium channel (ENaC). First causes autosomal dominant PHA1, also called renal form, second is responsible for the more severe and systemic form of PHA1 and is inherited in an autosom...

Background: Children with SCA are six times likely to be vitamin D deficient. The prevalence of VDD in SCA is 65–100% (USA, Jeddah, Spain, England). Reasons for these include: recurrent illness, hospitalization, Increase resting energy expenditure, poor appetite, inadequate food intake, increased energy & micronutrient needs and probably excessive body covering. VDD in SCA is associated with increasing co morbidities. However, there are no studies from Nigeria the cou...