ESPE Abstracts

Management of DSD is a sensitive area within the field of paediatric endocrinology. On the one hand, major progress has been made in amongst others understanding the molecular genetic background and the germ cell cancer risk of certain DSD conditions. On the other hand, practices that were common in the past, such as early genital surgery have become strongly criticised and controversial nowadays, leaving clinicians as well as patients and their families with a lot of question...

In the past year, basic and genetic studies revealed again novel genes and mechanisms implicated in 46,XX and 46,XY DSD. The Fgf9-/- mouse model of human synostosis syndromes revealed an unexpected male-to-female sex reversal phenotype, so far not observed in humans. Specific heterozygous human WT1 gene variants located in the 4th zinc finger were found to cause 46,XX virilization due to (ovo-)testicular DSD, and the transcription factor...

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

Keywords: transgender, GnRH agonists, gender affirming hormones, final height, growth, pubertyBackground: Trans boys (TB) and trans girls (TG) who start medical gender-affirming treatment at Tanner stage 2-3 undergo early puberty suppression (ePS) with Gonadotropin-Releasing Hormone agonists (GnRHa) for several years and subsequently receive gender-affirming hormones (GAH), around 15-16 years. This treatment clearly inte...

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...