ESPE Abstracts

Background: Biallelic loss of function (LoF) mutations in the leptin receptor gene (LEPR) cause a striking phenotype of early-onset severe obesity and hyperphagia. Additionally, hypogonadotropic hypogonadism, growth hormone deficiency, and/or hypothyroidism are often present. Currently, 19 European patients (all aged <30 years) are described in literature. As clinical trials investigating MC4R-agonist treatment are performed throughout Europe, ide...

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: Subtle impairments in the thyroid function of pregnant women are associated with poorer scores on mental developmental scales in their children at age 2–3 years, and with reduced performance in a simple reaction time test at 5–6 years. However, associations with school performance estimates have never been studied.Objective and hypotheses: We aimed to assess the effect of normal variation in the maternal thyroid function during earl...

Background: Cardiovascular disease (CVD) is the major cause of mortality in diabetes mellitus type 1 (T1DM). Dyslipidemia will increase this risk. Several guidelines have been published, how to treat dyslipidemia in T1DM, yet some studies have shown that the number of patients who are treated according to these guidelines is low.Objective and hypotheses: To investigate the frequency of dyslipidemia in children and adolescents with T1DM and if they are tr...

Objective: Comparison of studies on remission rates in pediatric Graves’ disease is complicated by lack of uniformity in treatment protocols, remission definition, and follow-up duration. We performed a systematic review on remission rates in pediatric Graves’ disease and attempted to create uniformity by recalculating remission rates based on an intention-to-treat analysis. Results: Of 1,890 articles, 29 articles consist...

Introduction: The gold standard for the diagnosis of adrenal insufficiency (AI) is the ACTH stimulation test. According to the guidelines approved by the European Endocrine Society, the ACTH stimulation test should be performed with the administration of the standard dose of i.v. Synachten® 250 µg for adults and children aged ≥ 2 years (infants should receive 15 µg/kg, children ≤ 2 years 125 µg). In many clinical settings a Syna...

Background: A reduced reproductive lifespan is one of the most significant implications for girls with Turner syndrome (TS) and is due to an accelerated loss of ovarian insufficiency. Lately, there has been a surge in scientific research aimed at whether ovarian tissue cryopreservation (OTC) is a viable option for fertility preservation in girls with TS. This required a unilateral ovariectomy for girls with TS who may already have a poor ovarian reserve.<p...

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...