ESPE Abstracts

Background: 25-Hydroxyvitamin D (25(OH)D) deficiency is reported to be common in patients with rheumatoid arthritis and associated with disease activity, physical disability, and cardiometabolic intermediates; data in patients with juvenile idiopathic arthritis (JIA) are inconsistent.Objective and hypotheses: To assess serum 25(OH)D in children, adolescents, and young adults with JIA, and to identify the risk factors for vitamin D deficiency in JIA patie...

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: The adrenal glands and gonads develop from an area of intermediate mesoderm between 6 and 10 weeks post conception (wpc) in humans. Elucidating the genomic components and pathways in these processes could reveal novel aspects of human developmental biology and new factors implicated in adrenal insufficiency and DSD.Objective and hypotheses: To develop a unique genomic atlas of adrenal and gonad development during critical stages of human embr...

Background: A compromised final height (FH) is a concern in patients diagnosed with congenital adrenal hyperplasia (CAH). The lack of achievement of the genetic target height (TH) can be attributed to treatment with high doses of corticosteroids and high levels of adrenal androgens. Despite the emergence of new therapeutic modalities such as the use of anti-androgens and growth hormone it has been shown that a favorable FH can be achieved with careful use of corticosteroids.</...

Background: Loss-of-function variants in the NR5A1 gene are frequent causes of 46,XY differences of sex development (DSD). To date, the Human Gene Mutation Database contains 291 NR5A1 variants, most of which are missense (69%). Mouse models demonstrated the effect of loss of SF-1 on sex development, but the interactome of SF-1 is huge and an explanation for the broad phenotype is still missing. Controversies exist as: a) in vitro transactivation assays of NR5A...

Introduction: Boys born small for gestational age (SGA) often have undermasculinized genitalia. Little is known about the pubertal development and gonadal function on a longer-term in this specific group of males.Aims: To determine the (pubertal) development and long-term urological and endocrine outcome of undermasculinized boys born SGA compared to undervirilized boys born appropriate for gestational age (AGA).<p c...

Introduction: Hormonal deficits are well known complications after allogeneic human stem cell transplantation (alloHSCT) in childhood and treated according to existing guidelines. It is assumed that bone mass and strength accrual during puberty is also often impaired, due to toxic therapy and prolonged inactivity, but data on bone geometry and strength are scare in this particular group.Objective/Patients and Methods: Cr...

Background/Aim: Currently, the minimum of the GH peak (pGH) to GH provocative stimuli, including the glucagon stimulation test (GST), has been arbitrary set in children at 7 µg/L, irrespective of gender and age. Several doses (fixed or per bodyweight) and ways of administration (IM or SC) of glucagon are being used in daily practice. This retrospective study explores the influence of gender, age, and adiposity on the pGH after a maximally effective glucag...

Background: The European Society for Paediatric Endocrinology (ESPE) developed an interactive e-learning portal for pre-and postdoctoral training: (www.espe-elearning.org).Objective and hypotheses: The aim of the study was to evaluate the role of e-learning in the formative assessment of competencies (medical expert, communicator) of fellows in pediatric endocrinology in informing patients and parents with a di...

Background: Progestins such as lynestrenol (L) can be used in female to male (FtM) adolescents with gender dysphoria (GD) who have advanced pubertal development to reduce the psychological burden of menstruation. L can later be combined with cross-sex hormones (testosterone esters) (L+T). L is much cheaper and easier to administer than GnRHa. To date, few data exist on the (side) effects of progestins for this indication.Objective and hypotheses: To repo...