ESPE Abstracts

Background: Childhood onset (CO) hypogonadotrophic hypogonadism (HH), congenital or acquired after midline tumours and their treatment, is reported to have significantly poorer outcomes, in terms of adult spermatogenesis induction and duration of treatment to conception, compared with HH of post pubertal onset. A mixed cohort (youngest aged 26 years) reported median time to conception of 28 months.1 Use of hCG and FSH in adolescence is reported to result in spermato...

Background: Osteogenesis imperfecta (OI) is characterized by abnormal bone development with low bone mass and increased bone fragility. Dominant mutations affect synthesis & structure of type 1pro-collagen. Recessive mutations affect post-translational processing or tracking of type 1 pro-collagen. OI may be associated with dentinogenesis imperfecta type 1, for both primary and permanent dentition, particularly primary, manifested as tooth discoloration, reduced enamel thi...

Background: Intra uterine growth retardation (IUGR) is well recognized to result in infants born small for gestational age (SGA). Early morbidity is followed by increased lifetime risks for health problems, particularly in the 10% of IUGR infants who fail to catch up. Risks include metabolic syndrome with obesity, insulin resistance, abnormal glucose metabolism, hypertension, dyslipidaemia, T2DM. Rapid weight gain in infancy is associated with increased incidence of later obes...

A 12 year old boy sustained a severe head injury by a passing car whilst crossing the road. Injuries were confined to massive basal skull fracture, right sided blindness, acute onset diabetes insipidus, extradural and subdural bleeding requiring surgical decompression. Pre-operative physical examination revealed a healthy looking boy, height 60th centile for age, Tanner stage III puberty, 10 ml testes bilaterally. MR head demonstrated apparent pituitary stalk transection and r...

Adrenal insufficiency of any cause results in major morbidity and increased lifetime risk for adrenal crisis and potential mortality. A majority of those affected by disorders of either congenital or acquired origin have deficiencies of both glucocorticoid and mineralocorticoid. Preferred replacement treatment for infants, children and adolescents with growth potential is considered to be with hydrocortisone and fludrocortisone.Both medications are advoc...

Introduction: Hypopituitarism has been reported to be associated with lower quality of life (QoL), marital rates, and sex-life satisfaction in adulthood in patients with GH deficiency. Very few studies have examined this in those with childhood-onset multiple pituitary hormone deficiency (COMPHD).Aims: To evaluate QoL in adults with COMPHD.Subjects and methods: All COMPHD patients aged (≥18 years were identified from medical ...

Background: Bone marrow transplantation (BMTx) involves pre-conditioning regimens that compromise fertility Delayed puberty and hypogonadism are common in children with beta thalassemia major, due to chronic disease and transfusion requirements, due to iron overload in endocrine glands.Objective and hypotheses: Pubertal induction using hCG and FSH prior to gonadotoxic conditioning before BMTx should result in spermatogenesis sufficient to store sperm. We...

Background: Bone involvement occurs commonly in pediatric malignancies, due to infiltration, metastasis or avascular necrosis. Pain is frequently chronic, debilitating, requires narcotic analgesia and can result in immobilization in bed or wheelchair. Intravenous bisphosphonates whilst primarily acting as osteoclast inhibitors also result in rapid and often complete pain relief in primary bone fragility disorders. When administered to children with malignant conditions affecti...

Background: Somatotropinomas are rare in childhood and are frequently associated with genetic mutations. AIP mutations are found in 20–25% cases of sporadic pediatric adenomas and are most commonly associated with GH secreting tumours that are large, aggressive and may be resistant to medical therapy.Objective and hypotheses: To assess response to Pegvisomant, a GH receptor antagonist in two children with sporadic somatotropinomas due to AIP mutatio...

Background: Neonatal hyperthyroidism is a rare condition seen in infants born to mothers with Graves disease, with transplacental transfer of TSH receptor antibodies (TRAb) to the baby. Some patients have been shown to swing from hypothyroidism to hyperthyroidism as TSH receptor blocking and stimulating antibodies may coexist.Objective and hypotheses: To describe a rare clinical event of a neonate with severe Graves hyperthyroidism, born to a mother with...