ESPE Abstracts

Objective: To explore the clinical manifestation of a case of hereditary hypophosphataemic rickets with hypercalcuria (HHRH), describe a potentially novel mutation and identify key learning points in the diagnosis and management.Background: Inherited forms of hypophosphoatameic rickets such as XLH have phosphaturia, often mediated by elevated FGF-23 levels and low or inappropriately normal 1,25 OHD levels. Conversely, in...

Background: Klinefelter syndrome (XXY) is characterised by sex hormone aneuploidy. It is one the most common causes of primary hypogonadism, impaired spermatogenesis and testosterone deficiency. It affects around 1 in 500 phenotypic males. Approximately 25% of the patients are diagnosed in childhood. The hallmark of the condition is the small volume of the testicles and azoospermia. Most adolescent progress through puberty at the expense of elevated gonadotrophins.<p class...

Background: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder characterised by ACTH resistance and leads to isolated glucocorticoid deficiency. Mutations in the gene encoding the ACTH receptor (MC2R) are responsible for around 25% of cases.Case report: The female index case was hyperpigmented at birth. At one week of age her ACTH level was >1200 ng/ml, plasma renin activity (PRA) 11.4 pmol/ml/h with an aldosterone of 520...

Background: Regional variations in height standard deviation scores (SDS) are documented in the literature due to a multitude of factors such as diverse ethnicities, social determinants, migration patterns, and lifestyle. Referrals to pediatric endocrine clinics for short stature are frequent, often guided by standardized criteria set for primary care or clinical indications from secondary care in the UK.Objective: 1) To...

Vitamin D dependent rickets type 1A (VDDR-1A) is a very rare autosomal recessive disorder caused by mutations in the CYP27B1, which encodes vitamin D 1α-hydroxylase. A study was conducted to understand the clinical and genetic profile of patients with 1 alpha hydroxylase deficiency.Method: A retrospective evaluation of the clinical presentation, treatment and genetic profile of patients diagnosed with 1 alpha hydroxylase deficiency...

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...

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Introduction: Osteonecrosis can be a debilitating consequence of treatment for acute lymphoblastic leukaemia (ALL), most commonly affecting patients aged between 10 and 20 years at diagnosis of malignancy. Patients may have asymptomatic lesions that spontaneously regress, and little is known about the natural history of lesions. There is also limited understanding of the relationship between osteonecrosis and other markers of bone health.Aims: The aims o...

Background: Congenital hypothyroidism (CHT) may be viewed as a relatively easy condition to diagnose and treat. However, for the parents who are contacted with the neonatal screening results the news can be devastating, and the quality of information provided can be very variable.Objective and hypotheses: We aimed to explore the experience of parents at the time of diagnosis, and ascertain how we could improve this.Methods: In asso...

Background: Beckwith-Wiedemann Syndrome (BWS) is a rare overgrowth disorder secondary to various mutations in growth-regulatory genes on chromosome 11p15.5. A well-established association exists between BWS and both benign and malignant tumours, most commonly Wilms’ tumour and hepatoblastoma. We present a less frequently described diagnosis of bilateral phaeochromocytoma in association with BWS.Case report: We report the case of a 14-year-old girl w...