ESPE Abstracts

Prader-Willi syndrome (PWS) is a complex genetic disorder which affects endocrine and neurological systems, metabolism and behaviour. In the neonatal period PWS is characterised by hypotonia, and resultant failure to thrive, whilst in childhood hyperphagia and obesity typically predominate. Patients can develop hypothalamic dysfunction and a range of endocrinopathies, including growth hormone deficiency, hypogonadism and hypothyroidism. Patients with PWS benefit from early and...

Background: Neonatal diabetes, diabetes diagnosed before 6 months of age, is rare, with incidence of approximately 1:90,000–160,000 live births. In approximately half of cases, neonatal diabetes is transient and usually resolves between 6 and 18 months of life. In the remainder of cases, the diabetes is permanent. Mutations in the GLI-similar 3 (GLIS3) gene encoding the transcription factor GLIS3 are a rare cause of permanent neonatal diabetes and congen...

Introduction: During the COVID-19 pandemic, we have seen an increase in consultations for Precocious puberty (PP) and accelerated puberty.Aim: To assess the frequency of PP and its progression before and during the pandemic.Materials and Methods: We retrospectively evaluated the patients's medical records referred to a Paediatric Endocrinolgy Unit between April 2018-March 2021...

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Introduction: CNS tumors may cause precocious puberty (PP): in most cases gonadotropin-dependent PP, but in boys ß-HCG- secreting tumors may cause gonadotropin-independent (GIPP) with extremely high testosterone secretion due to Leidig cell stimulation by ß-HCG. Rapid bone maturation in such cases can lead to growth plate closure and poor final height prognosis. Aromatase inhibitor (AI) are administered in children with McCune-Olbright disease, famil...

Background: Patients with isolated growth hormone deficiency (GHD) will routinely have an MRI scan of the pituitary and brain to assess pituitary size and presence of any intracranial lesions. The result may change the threshold for monitoring for further hormone deficiencies. However the test may also detect unexpected or unrelated abnormalitiesAim: To review the incidence of normal and abnormal MRI scans in children with a diagnosis of isolated GHD.</p...

Introduction: Mutations in IGSF1 result in X-linked congenital central hypothyroidism, macroorchidism and a variable spectrum of anterior pituitary dysfunction, most commonly including hypoprolactinaemia. We identified a novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) in a 17 year-old adolescent, inherited from his heterozygous mother.Case: A novel hemizygous IGSF1 mutation (c.3191T>C, p.L1064P) was identified by direct se...

Background: GH deficiency is the most common endocrine disorder in childhood brain tumours survivors.Objective and hypotheses: To examine results and safety of GH treatment in patients with childhood brain tumours.Method: 118 patients (72 craniopharyngioma, 29 medulloblastoma, 17 germ cell tumours) received hGH in the dose 0.03–0.034 mg/kg per day for 2.3±0.8 years. The mean chronological age at the start of the treatment...

Introduction: The Newborn Screening Programme (NBS) enables earlier diagnosis of congenital hypothyroidism (CH). However, cases of central congenital hypothyroidism (CCH) are missed in countries which use thyroid stimulating hormone (TSH) based screening strategy. Understanding the pathogenic aetiology of CCH is particularly important because many patients have additional pituitary hormone deficiencies. New genes have been implicated in CCH, including the rece...

Introduction: There is considerable variation in practice when assessing adrenal function in adrenal insufficiency; duration of glucocorticoid defined to confer risk, early morning cortisol assay (EMC), Synacthen test (ST) - both low dose (LDST) (1microgram) or standard dose (SDST) (36microgram/kg [maximum 250micrograms]) and symptomatology. At our tertiary children’s hospital, even between departments, there is variation in those identified as being at ...