ESPE Abstracts

Context: Children with congenital adrenal hyperplasia (CAH) require hydrocortisone replacement from birth. The highest ACTH driven endogenous production of androgens happens in the early morning. To achieve a good therapy control, immediate release hydrocortisone is given early in the morning or late at night. In year 2021 the hydrocortisone modified-release hard capsule (Efmody®) was approved by the European medicine agency and from September 2021 it is l...

Introduction: Metabolic control (MC) of patients with type 1 diabetes (DM1) is linked with complications in short and long term follow up. Adolescence is a critical period in the treatment of DM1, making it difficult to achieve good MC. Few studies, all conducted in the United States, have shown an association between mother´s depressive symptoms with poorer MC of their adolescent.Objective: To evaluate the associat...

Background: One of the main concerns in patients with growth disorders is to achieve optimal adherence to growth hormone (GH) treatment. For this it is important to identify patients with low adherence to treatment and to evaluate actions to improve it.The Merck Patient Support Program (PSP) carried out educational actions aimed at patients with low adherence and their parents, to raise their awareness of the importance of good adherence...

Background: A somatic activating GNAS mutation leads to the triad of café au lait macules, fibrous dysplasia and precocious puberty known as Mc Cune Albright Syndrome (MAS). We present a patient with bone marrow failure as a rare non-endocrine complication of MAS.Clinical case: A 2-year-old girl with neonatal giant cell hepatitis, a large right sided café au lait spot and fibrous dysplasia was diagnosed with MAS. The severe polyostotoc fibrous ...

SOX3 is located on the X-chromosome (Xq27.1) and encodes a SRY-related protein that acts as a developmental transcription factor. Copy Number Variations (losses and gains), mutations of polyalanine stretches (deletions or expansions) and missense mutations of SOX3 have been associated with growth hormone deficiency with incomplete penetrance, hypogonadism, differences of sexual development and variable additional endocrine disorders (MIM #312000 and #300123)....

Clinical Case Description: Patient, 14 years 6 months old, complained of irregular menstrual cycle. On clinical examination, sexual development was Tanner 4, Me at 13 years old, the girl had 3 menses, with a last delay up to 8 months. Single terminal hairs along the white line of the abdomen, areola. The patient had epicanthus and narrowed eye slits of different sizes. She was operated on for congenital blepharophimosis in infancy. No one has similar problem...

Context: Off-label and unlicensed use is widespread in medical therapy of children. Since 2007 there is an EU regulation, which includes the need for a pediatric investigation plan (PIP) in the drug approval process. In 2018, hydrocortisone granules in capsules for opening (Alkindi®) became the first medicine to be approved for the treatment of adrenal insufficiency in children from birth.Methods: An anonymised onli...

Amiodarone induced hyperthyroidism is a known side effect of amiodarone treatment. In the pediatric population long-term amiodarone treatment is rarely indicated because of its severe side effects including thyroid function impairment and therefore treatment is restricted to therapy resistant arrhythmias. In the literature scarce data is available on management and therapy of amiodarone induced thyroid dysfunction at a young age. We present three adolescent patients developin...

The Easypod™ Connect Observational Study (ECOS) assessed real-time adherence in patients from 24 countries who were receiving recombinant human growth hormone (r-hGH; Saizen®) via easypod™, which is an electronic injection device. Overall, ECOS showed mean adherence was maintained at ~80% for up to 3 years. Here, we assess the adherence to r-hGH administered via easypod™ in the Argentinian cohort of patients from ECOS (NCT01582334).<p class="ab...

In CAH due to 21-OH deficiency, phenotype-genotype correlation is known. However, the same genetic events may cause different clinical forms of the disease. A case of CAH associated with the P30L in the CYP21A2 gene in presented. The Caucasian girl was born normally and growing healthy till the age of 3.y., when her mother noticed pubic hair growth; at the age of 4 she had acne and an increasing sweating. At 6 y. of age, she was brought to paediatric endocrinologist f...