ESPE Abstracts

Background: Pituitary gland development is a well conserved process that starts with formation of Rathke’s pouch and specification of the primitive intermediate and anterior pituitary tissues. This early developmental sequence is conserved in humans compared to other mammals despite the fact that the human intermediate pituitary regresses during early gestation.Objective and hypotheses: We have identified the transcription factor Pax7 as key regulat...

Cytochrome P450 oxidoreductase (POR) is the obligatory redox partner of steroid and drug-metabolizing cytochrome P450s located in the endoplasmic reticulum. Mutations in POR cause a broad range of disorders like congenital adrenal hyperplasia that may resemble bone malformations resembling Antley-Bixler syndrome. Genome sequencing studies have revealed the existence of a POR missense variant P228. We aimed to determine the detailed functional impact of POR variant P228L for it...

Background: Secretion of catecholamines by adipose tissue M2 macrophages was recently proposed as a molecular mechanism leading to activation of brown adipose tissue and heat generation in mice. However, published data are conflicting and it is not clear whether this pathway might play a role in humans. To shed light on this, we studied macrophage polarization in human white and brown adipose tissue and related it to thermogenic gene expression.Methods: ...

Background: Rathke’s cleft cyst (RCC) has been reported rarely in children and adolescents. The occurrence of RCC with hypoplastic anterior pituitary can be explained by their common embryologic origin. However, the effects and sfety of recombinant human GH (rhGH) in GH deficient (GHD) children with RCC has not been previously reported.Objective and hypotheses: To assess the effects and safety of recombinant human GH (rhGH) in GH deficient (GHD) chi...

Background: Early postnatal administration of recombinant human gonadotropins can be an effective way to mimic mini-puberty, and thus increase penile growth in infants with congenital hypogonadotropic hypogonadism (CHH). We report for the first time its efficacy on an infant with partial androgen insensitivity syndrome (PAIS).Objective and hypotheses: To evaluate the benefits of a continuous subcutaneous infusion of recombinant human gonadotropins (CSCI-...

Background: A broad spectrum of human diseases, including abnormalities in steroidogenesis, are caused by mutations in the NADPH cytochrome P450 oxidoreductase (POR) (1-2). Cytochrome P450 proteins perform several reactions, including metabolism of steroids, drugs and other xenobiotics. Therefore, genetic variations in POR can impact many different metabolic pathways by changing the activities of cytochromes P450 (1). In 2004 the first human patients with defe...

Introduction: Accumulating evidence indicates various but significant effects of human breast milk IGF1 (HMIGF1) on infantile linear growth and weight gain.Objectives and Methods: We performed electronic literature systematic review using PubMed, Google Scholar, and Web of Sciences with the aim to provide an update on various effects of HMIGF1 on infantile and childhood growth. We reviewed 12 studies (n= 941 inf...

Introduction: Insulin-like growth factor (IGF)-1, IGF binding proteins (IGFBPs) and regulatory metabolites, including cyclic Glycine-Proline (cGP), have a possible role in modifying infant growth trajectories through their effects on linear growth, and body composition. There is no consensus on how maternal BMI affects breast milk IGF1 level.Aim: We reviewed the recent literature about human milk (IGF)-1, and cGP concent...

Background: Present knowledge on the effects of growth hormone (GH) on aging and lifespan are controversial. Clinical data indicate that normal or high levels of GH may accelerate aging and increase the risk of cardio-vascular diseases. Very small embryonic-like stem cells (VSELs) are a population of developmentally early stem cells residing in adult tissues, which could have the potential role in aging and organ rejuvenation.Objective: The aim of the st...

Background: Turner syndrome (TS) arises from a complete or partial loss of one X chromosome (45,X) and is the most common genetic cause of primary ovarian insufficiency (POI) in women. Surprisingly little is understood about the pathogenesis of POI in TS beyond an acknowledged germ cell loss throughout the second trimester. Although X chromosome haploinsufficiency likely contributes, the variability in reproductive phenotype in 45,X TS suggests it is not the o...