ESPE Abstracts

Background: Maternal obesity can have long-term consequences for the offspring’s health, including increased risk of type-2 diabetes and cardiovascular disease. The C19MC imprinted locus on chromosome 19q13.4 comprises a cluster of 46 microRNAs, which are usually expressed only in the placenta and from the paternal allele exclusively. Besides its role favouring trophoblast migration, the C19MC locus is deregulated in several human cancers. It is unknown ...

Background: Congenital hypothyroidism (CH) is the most common cause of preventable mental retardation in children, thus screening programs of CH have been established for better management of the disorder and preventing its related neurodevelopmental consequences. Evidences from different screening programs indicated that the rate of CH is higher in pre-term and low birth weight newborns than normal ones due to the incomplete development of hypothalamic–pituitary axis in ...

Background: Precocious puberty (PP) is one of its variations which defines as appearance of physical signs of sexual development in a child prior to the earliest accepted age of sexual maturation, 7 years in girls and 9 years in boy. The exact mechanisms and genetic background of ICPP are not well understood. It is suggested that the kisspeptin neuropeptide, encoded by the KISS1 gene, could have role in this regard.Objective and hypotheses: Considering t...

Background: Although differences in pubertal timing alters frequency of indicators of attained stature at the extremes, its magnitude is unknown across ethnic groups of US youths.Methods: We performed analyses of anthropometry and Tanner staging data of 3206 cross-sectional national sample of youths ages 8–18y (53% male (n=1606), 72% Non-Hispanic White (NHW), 9% Mexican American (MA) and 19% Non-Hispanic Black (NHB). Specialized Tanner-stag...

Background: Stunting is a common reason for consultation in pediatrics, several etiologies are responsible, although endocrine causes is rare, it is important to make the diagnosis in order to provide early adequate treatment. however the treatment by rGH is usually well tolerated, side effects should be known, including the possibility of retinal edema revealing intracranial hypertension.Objective and hypotheses: Our purpose is to report a side effect o...

Our patient was a 19-year-old female who was referred for evaluation of secondary amenorrhea and underdeveloped secondary sexual characteristics, having undergone her first and only menstrual cycle at age 16. She had experienced four episodes of hypoglycemia during her childhood; two were associated with seizure activity. She was evaluated by endocrinology after her second episode of hypoglycemia at 3 years of age and no cause could be identified. She also had learning difficu...

Background: Soluble CD163 (sCD163) is shed from the cell surface into the circulation as a specific marker of macrophage activation. Macrophages are involved in low-grade inflammatory states such as obesity.Objective and hypotheses: To investigate the relationships between circulating sCD163 and metabolic parameters in asymptomatic prepubertal children.Method: A population of 236 school-aged Caucasian children (111 girls and 125 bo...

Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease that regulates IGF-1 availability, causes postnatal growth failure and changes in bone size and density in humans and mice. The present study aimed to determine the effects of daily administration (from PND5 to PND35) of recombinant murine (rm) PAPP-A2, in comparison to rmGH and rmIGF1, on mouse auxology and bone microarchitecture in homozygous Pappa2 knock-out (ko/ko) mice of both sexes. Hormone treatm...

Background: Marfan syndrome is an autosomal dominant genetic disorder with skeletal, cardiac, and ocular involvement. Mutations in the fibrillin-1 gene on chromosome 15 are responsible for the development of the syndrome.Objective: To present one case of neonatal Marfan syndrome.Case: The patient was a 1-day-old female neonate who was born at 36 weeks gestation via normal delivery. Her body weight was 2900 g and height 48 cm. Ultra...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...