ESPE Abstracts

Background: We have proposed a simple and comprehensive scoring system to evaluate clinical features of differences/disorders of sexual development (DSD); however, its clinical evaluation has not been performed.Aim: To evaluate the association between this newly proposed DSD scoring system (DSD-SS) and assigned gender in patients with 45,X/46,XY mosaicism.Methods: DSD-SS involves e...

Introduction: Consensus guidelines (2021) state that a second dry blood spot (DBS) should be considered for newborn screening (NBS) in preterms (delayed TSH rise).Objective: To evaluate the diagnostic yield of an NBS strategy including a second DBS at 14 days in preterms.Material and Methods: Retrospective study of 2 cohorts. Cohort 1: live births <37 weeks of gestational age (G...

Background: Combinations of follicle-stimulating hormone (FSH) and human chorionic gonadotropin (hCG) have been successful in treating males with hypogonadotropic hypogonadism (HH). The aim of this study was to investigate the efficacy and safety of corifollitropin alfa (CFA), a long-acting FSH analog, combined with hCG to induce testicular growth and pubertal development in adolescent males with HH.Methods: This was a 6...

Background: Wolfram syndrome (WS) is a rare autosomal recessive disorder, characterised by early-onset diabetes and optic atrophy. It is caused by mutations in WFS1.Objective and hypotheses: This study aimed to comprehensively review the natural history of WS in a large cohort of patients from the EURO-WABB registry.Method: Data from EURO-WABB patients with WS was analysed in conjunction with the Leiden Open Variation Data...

Background: Persistent Müllerian Duct Syndrome (PMDS) needs to be considered in boys (46, XY) presenting with bilateral cryptorchidism or unilateral cryptorchidism associated with an inguinal hernia. Anti-Müllerian hormone (AMH) gene as well as Anti-Müllerian hormone Receptor (AMHR 2) gene mutations have been identified in PMDS boys.Aim and methods: To report a novel mutation in the AMHR 2 gene in monochorionic d...

Magnetic resonance imaging (MRI) of the brain in disorders of sexual development (DSD) is still relatively scarce despite the opportunities it offers for understanding the influence of sex hormones on emotion and cognition. In this talk I will give an update on current structural and functional MRI research in different DSDs such as Klinefelter syndrome, Turner syndrome, Congenital Adrenal Hyperplasia, or Familial Male Precocious Puberty. Finally, parallels will be drawn to cu...

Craniopharyngiomas (CP) are rare, partly cystic and calcified embryonic malformations of the sellar/parasellar region with low histological grade (WHO Io). A bimodal age distribution has been shown, with peak incidence rates in childhood-onset at 5–14 yr and adult-onset CP at 50–74 yr. Clinical manifestations are related to hypothalamic/pituitary deficiencies, visual impairment, and increased intracranial pressure. Recent insight in molecular pathogenesis of CP opens...

Background: Congenital isolated GH deficiency (cIGHD) is a rare genetic disease occurring mostly in consanguineous families. It is caused by hGH-1 gene deletion or GHRH – receptor mutations.Aim of study: To collect retrospectively size at birth, developmental mile stones, linear and head growth and pubertal development before and during hGH treatment.Subjects: The medical charts of 37/41 patients with cIGHD (21 m, 16 f) contai...

Background: Secondary pseudohypoaldosteronism (PHA) type 1 is an uncommon salt losing condition of infancy caused by transient resistance of the mineralocorticoid receptors (MR) of the renal tubule to aldosterone. This can be secondary to urinary tract infection (UTI), urinary tract malformation (UTM) or obstructive uropathy. Ninety percent of reported cases present before 3 months and nearly all are under 7 months of age.Objective and hypotheses: The co...

Background: Ireland has a high incidence of type 1 diabetes in childhood (16.8/100, 000 per year (1). A small percentage of children with diabetes have maturity onset diabetes of the young (MODY) (2). Establishing the correct diagnosis is critical to optimal therapy and future genetic counselling (3).Objective and hypothesis: To review the cohort of children attending our tertiary diabetes service and describe the clinical features of those where MODY wa...