ESPE Abstracts

Background: Prenatal treatment with dexamethasone (DEX) has been used since the mid 80’s to minimize virilisation of girls with congenital adrenal hyperplasia. Long-term data on treatment safety and health outcome are still limited. It has been shown in animal models that prenatal dexamethasone treatment affects DNA methylation signatures as well as metabolism and behavior. We have previously shown that DEX affects working memory in children who were treated with DEX duri...

Background: Isolated hyperreninemic hypoaldosteronism due to aldosterone synthase deficiency is a rare autosomal recessive disorder linked to aldosterone biosynthesis defect (involving CYP11B2 gene). Its clinical presentation varies with age: during the first weeks of life it usually presents with salt-wasting syndrome (with severe hyponatremia, hyperkalemia, metabolic acidosis, vomiting, signs of dehydration) while in children it is usually characterized by failure to thrive,...

Background: Growth Hormone (GH) therapy has a positive effect on many parameters including metabolic and physiologic functions as well as its effect on growth. It has also been shown that GH therapy exerts a significant effect on cardiac morphology and function as evidenced by echocardiographic findings.Aim: To investigate left and right ventricle (LV, RV) diastolic function by Tissue Doppler imaging (TDI) in pre-pubertal growth hormone deficient (GHD) c...

Background: Transient neonatal hypothyroidism (T N HT) is a rare entity important to recognize. It is due to placental transfer of antibodies antirécepteurs of pituitary TSH. It is distinguished from permanent congenital forms of hypothyroidism, because it requires only limited substitution treatment in time.Objective and hypotheses: Report the observations of 6 children who presented T N HT.Method: This is a retrospective stu...

Background: A recent data indicates a complex mechanism of β-cell destruction in type 1 diabetes in which despite Th1/Th2 bias different other populations of immune cells like Th17 with specific IL17A secretion with proinflammatory action will mediate β cells autoreactivity. In humans, the relevance of Th17 cells in new onset T1DM is still controversial.Objective and hypotheses: The aim of our study was to evaluate circulating Th17 in children ...

Introduction: Mutations in the GH1 promoter are a rare cause of isolated GH deficiency (IGHD). In order to find the molecular cause of short stature due to IGHD, three siblings (2 M) born to consanguineous parents without mutations in the GHRHR and GH1 coding regions were screened for mutations in the GH1 promoter and locus control region. All patients harbored two variants (c.−123T>C and −161C>T) in homozygous state in the GH1 promoter, not found in 100 co...

Background: X-linked AHC is a rare disorder of the adrenal cortex caused by mutations in the NR0B1 (DAX1) gene. NR0B1 (DAX1) encodes for an orphan nuclear hormone receptor which is expressed in the adrenal, gonad, hypothalamus, and pituitary glands. Hypogonadotropic hypogonadism (HH) is the most frequently observed puberty disorder (absent or delayed puberty) caused by mutations in the NR0B1 (DAX1) gene and is due to impaired gonadotropin synthesis a...

Introduction: Osteogenesis imperfecta (OI) is a hereditary disease characterized by a wide range of skeletal signs. Mutations in COL1A1/A2 have been known to cause dominant OI. Recently, a heterozygous mutation in the 5′-UTR of IFITM5 (c.−14C>T) was identified as a new cause of dominant OI. We present three patients from three different families with two mutations in IFITM5 with extremely different phenotypes.Description...

Background: Mutations in the 17β-hydroxysteroid dehydrogenase (17βHSD 3) result in 46,XY disorder of sex development (DSD). Biochemical hallmark of 17βHSD 3 deficiency is a Testosterone/Androstenedione ratio (T/A ratio) <0.8. 17βHSD 3 mutations have been associated with a wide spectrum of phenotypes, ranging from under-virilized male to a female appearance of genitalia at birth. Indeed, 17βHSD 3 deficiency in prepubertal patients is often clinicall...

Background: Type 1 diabetes (T1D) is a T cell-mediated autoimmune disease. A more complex immunological picture is being unraveled, with a key role of innate immune cells at disease onset and maintenance. For new therapies based on immune-modulation to be possible, immune characterization of T1D patients is crucial.Objective and hypotheses: We aimed to characterise innate and adaptive immune cells of T1D children at a well-defined ‘onset-window&#146...