ESPE Abstracts

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: Recent studies demonstrate that children with Congenital Adrenal Hyperplasia (CAH) may develop visceral adiposity and insulin-resistance. Data on adipocytokines are scanty and contradictory.Objective: To evaluate leptin and adiponectin concentrations in CAH adolescents and investigate their correlation with glucocorticoids and hormonal and metabolic profile.Methods: Leptin, adiponectin, insulin and HOMA were evaluated i...

Background: Hypothalamic hamartomas(HH)-rare heterotopic congenital malformations (incidence 1:200 000)-present with central precocious puberty (CPP) or gelastic seizures (GS) but their natural history and best treatment strategy are unknown. Given their proximity to the hypothalamus–pituitary axis, wider endocrine dysfunction may be expected.Objective and hypotheses: To describe clinical features and any evolving endocrinopathies in HH patients, by...

Background: The effects of GH deficiency (GHD) and GH replacement therapy (GHRT) on body composition and functional measures of physical fitness are largely unknown particularly in children.Study aim: To evaluate body composition, muscular strength and flexibility, and exercise tolerance in GHD children at baseline and after one-year GHRT.Patients and methods: We enrolled 19 children and adolescents with untreated ...

Congenital hyperinsulinism (CHI) is a life-threatening disease and manifests in the majority of cases in the first days after birth. Based on the distribution of affected cells, focal CHI forms are distinguished from diffuse CHI forms. Focal forms occur in most cases due to a paternally inherited heterozygous mutation in a subunit of an ATP sensitive potassium channel (ABCC8, KCNJ11). Within the diagnostic setting, focal forms can be visualized by 18F DOPA PET scan, as a marke...

Background: Homozygotes for the single nucleotide polymorphisms (SNPs) rs242941 and rs1876828 of the corticotrophin-releasing hormone receptor 1 (CRHR1) gene were previously associated with lower stimulated and basal cortisol levels respectively in asthmatic children on inhaled corticosteroids. Heterozygotes for rs41423247 of the glucocorticoid receptor (NR3C1) gene were found to have higher basal cortisol levels.Objectives</stro...

Background: GnRH-analogs (GnRHa) are the recommended treatment for Central Precocious Puberty (CPP). Despite a normal long-term outcome is generally reported, reproductive function and emotional sphere in adulthood are still poorly evaluated.Objective: To evaluate the general long-term outcome of young women with previous CPP treated with GnRHa.Patients and Methods: A cohort of 63 ...

Background: Thyroid hormone plays a key role in bone mineral homeostasis and significant alterations in its circulating levels have been associated with an impairment in skeletal growth during childhood. To date, the effects of subclinical hypothyroidism (SH) on bones have not been studied and the management of this condition is still debated.Aim: To evaluate bone mineral density (BMD) in children with mild, persistent S...

Multiple epiphyseal dysplasia (MED) is a chondrodysplasia characterised by delayed epiphyseal endochondral ossification, resulting in disproportionate short stature and early onset osteoarthritis. MED can be caused by heterozygous mutations in COMP, MATN3, COL9A1, COL9A2 and COL9A3, or bi-allelic mutations in SLC26A2. Human induced pluripotent stem cells (hiPSCs) are reprogrammed somatic cells which can differentiate to form all body tissues and have excellent potential for ti...

Background: Over 90% children grow normally, and attain final height within their genetic target. Up to 10% of all children do not spontaneously catch-up by the age 3 years, besides some cases of TS are diagnosed late, and others with SGA go undiagnosed and unattended.Objectives & Hypothesis: Early screening of growth patterns in children attending Child Protection Visits (PMI, France) in Dreux district. Our objective was the evaluation of prevalence...