ESPE Abstracts

46,XY differences of sex development (46,XY DSD) comprise a very heterogeneous group of people amongst DSD. While some conditions are well characterized on the molecular level, e.g. androgen biosynthesis enzyme deficiency or DSD due to genetic variants in the androgen receptor, many 46,XY DSD patients lack a specific diagnosis, especially those people where gonadal development is affected. A specific diagnosis, however, is helpful to develop an individualized management progra...

Introduction and objective: Gonadectomy was carried out for a long time after the diagnosis of complete androgen insensitivity syndrome (CAIS). It is now recommended to leave the gonads in situ in order to guarantee endogenous hormone production. It is unclear how best to clinically monitor testicular function. The aim of the study was to investigate whether inhibin B can be used as a future follow-up parameter to screen for gonadal function in CAIS p...

Androgen insensitivity syndrome (AIS) is a rare genetic disease caused by mutation in the androgen receptor (AR). The AR is an essential steroid hormone receptor that plays a crucial role in male sexual differentiation and development. Mutations in the AR gene on the X chromosome cause malfunction of the AR so that a 46,XY karyotype male shows some physical characteristics of a woman or a full female phenotype. Depending on the phenotype, AIS can be classified as complete, par...

Purpose: Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder caused by unresponsiveness to androgen because of mutations in the AR gene. Here, we investigated the clinical outcomes and molecular spectrum of AR variants in patients with AIS attending a single academic center.Methods: This study included 19 patients with AIS who were confirmed by molecular analysis of AR. Clinical features and endoc...

Background: Partial gonadal dysgenesis with a 46,XY karyotype (46,XY PGD) is a disorder of sex development (DSD) associated with abnormal development of the gonads. It is characterized by abnormally developed external genitalia with or without Mullerian structures. The degree of abnormality varies from a female phenotype with clitoral hyperplasia to a male phenotype with isolated hypospadias. The incidence is unknown. In 20-30% of patients, gonadoblastoma or i...

Introduction: Individuals with ovotesticular disorders of sexual development (OT-DSD) have both seminiferous tubules and ovarian follicles. The combination of gonads could be separated (ovary-testis), unilateral (ovotestis-ovary or ovotestis-testis), or bilateral (ovotestis-ovotestis). The last one is the rarest variant (24.5%). In 60% of cases, the karyotype is 46, XX.Case Report: 15-year-old, monochorionic-monoamniotic...

Introduction: Achondroplasia is caused by a pathogenic mutation in the FGFR3 gene, leading to impaired endochondral bone growth and multiple medical complications. Vosoritide (once daily, subcutaneous injection) has recently been approved by the European Medicines Agency (EMA) for treating achondroplasia in patients aged ≥2 years until closure of epiphyses. It has been made available in France via an early access program, a cohort Temporary Authorization fo...

Background: Differences in sexual development (DSD) are rare diagnoses, which affect the chromosomal, anatomical or gonadal sex differentiation. Although comprehensive counseling of patients and parents/carers is necessary to ensure a positive coping with the diagnosis and a well-informed decision-making, standardised programmes are lacking. Empower-DSD is a government-funded project, which developed an age-adapted multidisciplinary education programme to impr...

Despite significant advances in the medical management of childhood diseases, glucocorticoids (GCs) continue to be the mainstay of therapy for numerous serious conditions, including hematological malignancies, Duchenne muscular dystrophy (DMD) and inflammatory disorders. In order to understand the natural history of bone development in GC-treated children, a pan-Canadian longitudinal observational research study called "STOPP" (STeroid...

Background: Childhood obesity is a major global and European public health problem. The need for community-targeted actions has long been recognized, however it has been prevented by the lack of monitoring and evaluation framework, and the methodological inability to objectively quantify the local community characteristics in a reasonable timeframe. Recent technological achievements in mobile and wearable electronics and Big Data infrastructures allow the engagement of Europea...