ESPE Abstracts

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: Primary aldosteronism (PA) is a rare form of secondary hypertension. In adults PA is often caused by unilateral adrenal adenoma which can be cured by unilateral adrenalectomy. However, in young patients hereditary causes of PA have to be considered with bilaterally affected adrenal glands.Objective and hypotheses: We report on an adolescent with PA due to a recently described KCNJ5 mutation and want to point out the importance of performing m...

Background: Inhalation corticosteroids (ICS) as treatment for asthma can interfere with the hypothalamic-pituitary-adrenal axis and could lead to hypocortisolism. The frequency of this systemic side effect and the correlation to ICS usage is still unclear. Given that the cortisol excretion is pulsatile and determined by acute stress and circadian rhythms, the usefulness of tests based on momentary measures, such as saliva or serum are therefore limited. Cortisol levels measure...

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...

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: Neuroblastoma (NBL) is the most common extra cranial solid tumor in children. Endocrine adverse effects after treatment for NBL have been reported of which mainly caused by treatment with 131meta-iodobenzylguanidine ([131I]MIBG) or with alkylating agents and may consist of thyroid disorders, gonadal insufficiency or short stature. Due to recent developments patients are increasingly treated with [177Lu]Lu-DOTATATE peptide receptor radionuclide ther...

Objective: Hypothalamic dysfunction is a rare condition and can be encountered in patients who have been diagnosed or treated for a suprasellar brain tumor. Due to its rarity, signs and symptoms of hypothalamic dysfunction may be difficult to recognize, leading to delayed diagnosis of the suprasellar brain tumor or to difficulties in finding the health care expertise for hypothalamic dysfunction after tumor treatment. To improve care and outcome of patients wi...

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...

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...

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...