ESPE Abstracts

Disorders or Differences of sex development (DSD) are a heterogeneous group of congenital conditions, involving variations of chromosomal, gonadal, or anatomical development. Diagnosis is based on clinical, biochemical, imaging and genetic evaluation. In recent years knowledge about genetic causes has increased, mainly due to improved genetic techniques. In this study we investigated the yield of exome sequencing in our patients with DSD. Patients and methods: Genetic i...

Background: In boys with suspected delayed puberty, serum testosterone is used for the evaluation of gonadal function. It is known that early in puberty testosterone levels show a sleep wake rhythm, with nocturnal levels increasing ahead of daytime levels. To evaluate the onset of puberty, the use of salivary testosterone would be an appealing alternative to serum analysis as it is non-invasive and allows multiple nocturnal sampling. Moreover, it is thought that salivary testo...

Background: Percutaneous epiphysiodesis (PE) around the knee is the treatment of choice in the Netherlands to reduce predicted excessive final height. Studies until now are limited, had small numbers of patients and short follow-up periods.Objective and hypotheses: This nationwide Dutch long-term retrospective follow-up study aimed to assess final height (FH), complications and satisfaction after PE. Primary hypothesis was: ‘The PE around the knee i...

Background: Characterization of testicular adrenal rest tumours (TART) are one of the major long-term complications in congenital adrenal hyperplasia (CAH) patients. Although several adrenal-like properties have been assigned to these benign lesions, the exact etiology has not been established yet.Objective and Hypotheses: The aim of this study was to analyze several (steroidogenic) characteristics of TART tissue which may be classified as adrenal cortex...

Background: In our center for adults with rare genetic syndromes, we see adolescents and young adults with overgrowth syndromes, among others. In our 'general endocrinology' outpatient clinic, we also see patients with overgrowth, but in these cases the overgrowth is due to excess of growth hormone (GH). Our clinical impression is that the differentiation between the two is often challenging. Therefore, we believe it is important to emphasize the dif...

Background: Although motor performance is often impaired in patients with Turner syndrome, the exact prevalence of motor problems is unknown. Detailed studies on specific motor profiles are lacking and the exact relationship between performal IQ and motor function is unknown.Aims and objectives: 1. To describe motor performance in our population of children and adolescents with Turner syndrome including the differentiation in specific motor skill domains...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Context: Supra-physiological exogenous corticosteroids used during the last months of pregnancy may lead to temporary neonatal adrenal suppression. Little is known about the outcome of neonates from mothers who used corticosteroids during pregnancy.Objective: The evaluation of clinical symptoms and biochemical findings of adrenal suppression in neonates from mothers using corticosteroids during pregnancy.<p class="ab...

Background: Early-onset obesity is associated with genetic obesity disorders. According to the Endocrine Society guideline for paediatric obesity, genetic screening is indicated in selected cases with age of onset (AoO) of obesity <5 years. However, this cut-off value lacks evidence. Identifying genetic obesity is vital as treatment for leptin-melanocortin pathway disorders becomes available. We aimed to determine whether AoO of obesity is predictive for g...

Background: Testicular Adrenal Rest Tumours (TARTs) are benign tumours that frequently occur in male patients with congenital adrenal hyperplasia. They exhibit both testicular and adrenal characteristics, but their aetiology is unknown. Additionally, TART resembles Leydig cell tumours (LCTs), while no marker exist to discriminate between these testis tumours. GATA transcription factors play an important role in eukaryotic development and are expressed in foetal and adult adren...