ESPE Abstracts

Introduction: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) rely on lifelong hormone replacement with hydrocortisone (HC). Alkindi® is the first HC licensed for children from birth to 18 years with AI, available in small doses of 0.5, 1, 2 and 5mg required for the needs of neonates, infants and children.Objectives: Primary: long-term safety of Alkindi®; Secondary: long-term d...

Background: The heterozygous mutation in the SRCAP gene (611421) on chromosome 16p11.2 causes a rare genetic disorder named Floating–Harbor syndrome (FHS). The clinical diagnosis of FHS is characterized by a triad of short stature with significantly delayed bone age; expressive language delay, usually in the presence of normal motor development; and a triangular face with prominent nose and deep-set eyes.Objective: To investigate the presence of SRC...

X-linked hypophosphatemia (XLH, MIM 307800) is a rare hereditary disorder of bone metabolism characterized by growth impairment, leading to bone deformities and short stature and beside others to muscle function deficits. XLH is caused by defect of endopeptidase PHEX leading to high levels of FGF-23 and thereby renal phosphate wasting. While conventional treatment includes substitution of phosphate and 1-25 OH-Vitamin D, now a treatment with a FGF-23 antibody (burosumab) is av...

Introduction: Automated insulin delivery has demonstrated improved glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). The present analysis investigates real-world glycemic outcomes in children and adolescent on the MiniMed™ 780G advanced hybrid closed loop (AHCL) system after switching from MiniMed™ 640G predictive low glucose suspend system (PLGS) or MiniMed 670G hybrid closed loop (HCL) system and calibration-free ...

We present the case of a now 20 months old female patient, in whom we diagnosed MAS on the basis of pseudoprecocious puberty and hypercorticism at the age of 10 months. Medical history and photodocumentation suggested that symptoms of hypercorticism were present soon after birth. At age 4 months thelarche had occurred, followed by vaginal bleeding at age 5 months. At first presentation at our outpatient clinic, the girl was severely short (-5 SDS), with only minimally advanced...

Background: Aldosterone synthase deficiency (ASD) is caused by biallelic inactivating CYP11B2 variants. Infants mainly present with failure to thrive and salt wasting in early infancy. Moreover, different factors may cause downregulation of aldosterone synthase and secondary deficiency.Objective and Hypotheses: We present a toddler with polyuria and polydipsia and steroid hormone precursors suggestive of ASD, bu...

Introduction: An optimized replacement regimen with glucocorticoids and mineralocorticoids in subjects with congenital adrenal hyperplasia (CAH) aims at preventing life-threatening salt wasting and adrenal crises, virilization and pubertal precocity, and at enabling normal linear growth.Aims: We investigated puberty and its impact on final height in children and adolescents with CAH.Patients and Methods: In a cohort of post-pubesce...

Objective and hypotheses: The objective was to use whole-genome RNA profiling of testicular biopsies by DNA strand-specific RNA-sequencing to explore the causative role of isolated congenital cryptorchidism in azoospermia and/or infertility.Method: Fifteen cryptorchid patients, aged 7 months to 5 years, were enrolled in this study and underwent orchidopexy. During surgery, testicular tissue biopsies were collected and split in half for histological exami...

Background: Difficulties in transition of adolescent Turner Syndrome (TS) patients to adult health care has been reported in many studies.Objective and hypotheses: We conducted a medical and psychological follow-up of adult patients with Turner Syndrome which had been treated at our tertiary pediatric endocrine centre.Method: We screened for expected comorbidities and provided a questionnaire asking for current medical care. Furthe...

Introduction: Multinodular goiter is an extremely rare condition in neonates and can account for tracheal airway compression.Case report: A newborn girl presented immediately after birth with an inspiratory and expiratory stridor and a visible swelling in the neck. She was born term after an uneventful pregnancy with a birth weight of 3.26 kg. The mother had no known thyroid disease and had not used antithyroid or goitrogenic medication. She had a normal...