ESPE Abstracts

Background: Congenital hypopituitarism is a rare cause of pituitary insufficiency (incidence: 12–42 new cases/million per year; prevalence: 300–455 cases/million). The aetiology remains largely unclear: the most frequently correlated genetic abnormalities are those involving transcription factors implicated in pituitary organogenesis. The phenotype and neuroradiological findings associated with the underlying genotype may be highly variable (from an isolated hypopitu...

Background: Septo-optic dysplasia (SOD) is a congenital, rare anomaly (1:10 000) associated with optic nerve hypoplasia, midline brain abnormalities and pituitary hormone abnormalities. Genetic alterations associated are: HESX1, SOX2 and SOX3. SOD’s pattern of growth even without GH treatment has been reported to be often good.Objective and hypotheses: Evaluate SOD’s growth in patients followed in our Centre.Method: See F...

Background: SHOX-D is rarely diagnosed in early infancy as cause of short stature.Objective and hypotheses: Describe clinical characteristics of two girls with an early diagnosis of Leri-Weill dyschondrosteosis, admitted to our hospital because of severe short stature.Method: Mutation screening of SHOX and its regulatory regions was performed by MLPA. Family analysis was undertaken.Results: The first 1.3 year...

Background: Hypernatraemia in a neonate can be common, and is usually due to high rates of insensible water loss and high urine output and subsequent dehydration. This is commonly resolved with supplementation of feeds.Case presentation: We present a preterm baby born at 35 weeks gestation who was born in good condition, did not require ventilation or intensive care support. The only support required was for feeding and thermoregulation. In the second we...

Background: In a paediatric setting polydipsia can be a commonly reported symptom which is usually innocent and habitual in nature. Diabetes Insipidus is a rare cause of pathological polydipsia. A high index of suspicion must be used in patients who exhibit other symptoms alongside polydipsia and investigations considered.Case presentation: We present three patients who have presented to a district general hospital within a short period of time with subs...

Background: Resistance to thyroid hormone (RTH) is a dominantly inherited rare disorder (1:40000) mainly due to mutations in the THRB gene that lead to a decreased end-organ responsiveness to thyroid hormone. Clinical and molecular characteristics of four patients with RTH are described.Patients and methods: Four patients from three non-related families were studied; two boys (8.3 and 9.2 years old) and 2 adults (35 year old male and 27 year old...

Background: In 2020, a UK wide collaborative project between clinicians and patient organisations (Funding from Duchenne UK) called DMD Care UK was launched. The project aims to define the care standards which should be implemented as a priority in all UK centres. Adapting recommendations from the 2018 international care consensus, items were highlighted and used as standards for this audit in one tertiary centre. The standards are that all boys with DMD<p...

Background: Hypoglycaemia in patients with a high concentration of insulin and low concentration of C-peptide can be secondary to administration of exogenous insulin. This often results in safeguarding measures, with significant consequences for the patient and family. We report a novel case of a patient with symptomatic hypoglycaemia. Initial results suggested high insulin and low C-peptide levels, but subsequent testing revealed a pro-insulin processing diso...

Introduction: Arginine vasopressin (AVP) and thirst are the main determinants of water homeostasis maintenance, and dysregulation leads to polyuria-polydipsia syndrome. This comprises of three key conditions: CDI due to insufficiently secreted AVP; NDI, due to renal AVP insensitivity and Primary Polydipsia (PP), caused by excessive fluid intake resulting in physiological suppression of AVP. Differentiating between these three conditions is important, as the tr...

Background: Prenatal growth restraint associates with increased oxidative stress – as judged by mitochondrial dysfunction – in pregnancies complicated by preeclampsia or diabetes, but it is uncertain whether this is also the case in uncomplicated pregnancies.Objective and hypotheses: To assess the link between fetal growth restraint and placental mitochondrial dysfunction, as reflected by changes in mitochondrial DNA content and superoxide dism...