ESPE Abstracts

Background: Proprotein convertase subtilisin/kexin types 1 and 2 (PCSK1 and PCSK2) are expressed in neuroendocrine tissues where they cleave a subset of inactive prohormones into biologically active hormones, including pro-opiomelanocortin (POMC), proTRH, proinsulin, proglucagon, and proGnRH. Congenital deficiency of PCSK1 is a very rare syndrome causing malabsorptive diarrhea contrasting with severe early-onset obesity and hypopituitarism. We described here a new case of cong...

The functional activities of growth plate chondrocytes are tightly controled to regulate the pace of linear growth. Simplistically, growth rate is determined by the number of cells within the proliferative zone which is regulated by their rate of proliferation and also their rate of differentiation into the hypertrophic phenotype. In turn, a strong positive correlation exists between the final hypertrophic cell volume and the rate of growth. Interruption and/or deregulation of...

Background: We previously found that mast cells are present in the human adult adrenal gland with a possible role in the regulation of aldosterone secretion in both physiological conditions and aldosterone-producing adrenocortical adenomas responsible for primary hyperaldosteronism.Objective and Hypotheses: The aim of the present study was to investigate the presence of mast cells in the human fetal adrenal gland, and to provide arguments in favor of the...

Mast cells are known to control mineralocorticoid synthesis and secretion in human normal adrenal gland and aldosterone-producing adenomas through release of serotonin. We recently detected these immune cells in human fetal adrenal from 18 weeks of gestation in the subcapsular layer, in correlation with the expression of steroidogenic enzymes required for aldosterone biosynthesis. This observation suggests the implication of mast cells in the mineralocorticoid synthesizing pat...

Background and objectives: To study short-term effects of consequent weight loss on ovarian function and its correlation with morphometric and metabolic changes at 1 and 2 years after a laparoscopic adjustable gastric banding (LAGB) placement in severely obese adolescents.Subjects and methods: Our retrospective and observational study was conducted between July 2015 and January 2016 in a single center. Menstruations, anthropology and biological data were...

Background: We recently demonstrated the presence of mast cells in human fetal adrenal gland from 18–20 weeks of gestation (WG) within the subcapsular layer. In the adult adrenal, mast cells have been implicated in mineralocorticoid synthesis and secretion especially in aldosterone-producing adenomas. Because similarities exist between tumors and normal fetal development and as cell-to-cell interactions involving immune cells are implicated in organogenesis, we hypothesiz...

Background: The hypothalamic-pituitary-adrenal (HPA) axis may be suppressed at birth. In most infants this is tolerated well. HPA testing in infancy often generates ‘abnormal’ results although abnormalities of the HPA may not be identified and cortisol measurements often ‘normalise’ over time.[1]Aim: To contribute to the evidence base on neonatal HPA activity by reporting outcomes of infants age &...

Background: In infants, less than 1-year JGCT is extremely rare, with very few reported cases in the literature.Case Report: This 9-month old girl, presented with a day history of bloody vaginal secretions, with an increase in breast size bilaterally 2 months before presentation and growth of fine hair in the genital area. She had no skin hyperpigmentation, no skeletal abnormalities, and no dysmorphic features. On examination, the girl had no dysmorphic ...

Background: Newborn screening for congenital adrenal hyperplasia (CAH) has been shown to reduce time to diagnosis, and thus morbidity and mortality. Internationally, newborn screening for CAH continues to expand and screening techniques have improved, with the implementation of second-tier testing and use of gestational age stratification. The aim of this study was to examine the incidence and spectrum of early clinical presentations of CAH in an unscreened po...

Introduction: Congenital Lipoid Adrenal Hyperplasia (CLAH) is a severe deficiency of adrenal and gonadal steroidogenesis, caused by mutations in the StAR gene and the accumulation of cholesterol in the outer mitochondrial membrane due to steroidogenic acute regulatory protein (StAR) deficiency. Affected patients present peripheral adrenal insufficiency with early onset, and variable phenotypes at the age of puberty.Objective of o...