ESPE Abstracts

Background: Wolfram syndrome features diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness (DIDMOAD). Especially the neurological degeneration usually leads to a very poor prognosis. We present two cases of Wolfram syndrome, an autosomal dominant and an autosomal recessive type, caused by heterozygous mutations in the WFS1 gene.Case report: Case 1: a 13-year-old girl with a history of progressive sensorineuronal hearing loss ...

Background: Pseudohypoparathyroidism represents a group of clinical and molecular heterogeneous disorders, characterized by functional hypoparathyroidism, caused by end-organ resistance to the action of PTH. Pseudohypoparathyroidism manifests as hypocalcemia, hyperphosphatemia and elevated plasma levels of PTH. A combination of features, also known as Albright osteodystrophy including disproportionate short stature, obesity, dysmorphia, may co-exist.Case...

Background: ALS deficiency is characterized by mild short stature, delayed puberty, low serum IGF1, low serum IGFBP3 and undetectable serum ALS levels.Case: A 11.3 years old boy presented with short stature. He was born at term to consanguineous parents and the birth weight was unknown. On physical examination, his height and weight were 130.5 cm (−2.33 SDS) and 25.2 kg (−2.36 SDS) and he was prepubertal. The routine laboratory tests were nor...

Background: Rapid BMI increase in early childhood was found to be a contributing factor for impaired final height in boys with Cystic Fibrosis (CF). This may be explained by early adrenarche triggering an accelerated bone maturation resulting in a compromised growth spurt during puberty, comparable to children with SGA. In healthy Dutch boys, adrenarche starts from the age of 9 years with DHEAS ≥ 1 µmol/L. In Dutch girls, the onset of adrenarche is fr...

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...

Background: Adults with CF show a higher rate of osteoporosis compared to healthy adults. Achieving proper bone mass is a process starting in childhood. We aimed to evaluate the prevalence of decreased bone mineral density (BMD), changes during puberty and risk factors for low BMD in children and adolescences with CF in a large Dutch cohort.Patients and methods: A retrospective observational cohort study was performed in...

Background: It is well known that endocrine comorbidities occur frequently in children with cancer, especially in those with a brain tumor. In those children, increased intracranial pressure or hydrocephalus may lead to central precocious puberty. Furthermore, chemotherapy, especially alkylating agents, increases the risk for gonadal insufficiency. In this case series we describe 3 young girls with a brain tumor, who develop premature gonadotrophic activation,...

Background: Prediction models demonstrate potential in predicting growth in patients receiving recombinant human growth hormone (r-hGH) for growth disorders. However, considerable information from patients is needed to calculate a predicted growth curve. The curve matching technique only requires height data. This technique identifies growth curves that are similar (matched) among real-world patients within a database. The growth curves of these ‘matched...

Poor adherence to long-term growth hormone (GH) treatment can lead to suboptimal clinical outcomes. The easypod™ connect eHealth platform enables healthcare professionals to obtain an accurate picture of real-world adherence by allowing patients to transmit adherence data to a database. Our aims were to assess adherence to r-hGH (Saizen, Merck KGaA, Darmstadt, Germany) treatment with the easypod connect platform in children from treatment start to 48 months and to investi...

Background: 46,XY patients with 5α-reductase deficiency (5-ARD), reared from birth as girls, are reported to self-reassign as boys subsequent to a masculinizing puberty; whether this holds true in cases of early orchidectomy is less well documented.Objective and hypotheses: Prepubertal orchidectomy reduces the likelihood of gender self-reassignment.Method: Presentation, management and outcome of two siblings with 5-ARD with na...