Endocrine Abstracts

Background: General Medical Council (GMC) guidance describes an intimate examination as one that may be embarrassing for the patient, for example, breast or genitalia examination. Documentation of consent and use of a trained impartial observer (chaperone) is recommended for intimate examinations. Pubertal staging is often necessitated for assessment of growth and puberty. We assessed current practice in pubertal staging by paediatricians and paediatric endocrinology nurse spe...

A 5.65-year-old boy was referred with a 2-month history of accelerated growth and pubic hair development. Weight and height were >98th C. Pubertal assessment was G3 PH2 AH1 TV 5 ml/4 ml. There was no family history of precocious puberty. No birthmarks, or abdominal masses were present. Blood pressure was normal. Investigations revealed elevated testosterone (7.1 nmol/l), suppressed gonadotropins (LH <0.2 IU/l), normal 17-OHP, androstenedione and DHEAS, prepubertal LHRH...

Background: The choice of hydrocortisone (HC) formulation for children with adrenal insufficiency necessitates considerations for dose accuracy, palatability, and practicality in everyday life to optimise medicine adherence and health outcomes. Recently, several diverse new formulations have become available in the UK, but no information is available on real-life patient preferences for the different formulations.Objectives: Explore patient and parent ex...

Background: Mutations in BRAF are a rare cause of cardiofaciocutaneous syndrome (CFC). Recently, BRAF mutations have been reported in papillary craniopharyngiomas, but have not been described in patients with other hypothalamo-pituitary abnormalities. We describe three patients with CFC and septo-optic dysplasia (SOD) associated with heterozygous BRAF mutations.Cases: Patients presented in childhood with clinical features of ge...

Background: The 24-hydroxylase enzyme is responsible for the degradation of 1,25-dihydroxyvitamin D3. Loss of function mutations of the gene encoding 24-hydroxylase, CYP24A1, may cause hypercalcaemia, nephrolithiasis and nephrocalcinosis, and are responsible for some cases of idiopathic hypercalcaemia of infancy.Case: The index case presented with faltering growth at 4 months old. She was hypercalcaemic with serum calcium 2.79 mmol/l (normal r...

Introduction: Measurement of bloodspot 17-OHP is the current method of assessing hydrocortisone replacement in patients with congenital adrenal hyperplasia (CAH). Bloodspot 17-OHP has been measured in Southampton by LC–MS/MS since August 2011. Clinical observations of signs and symptoms of under- and over-treatment are equally as important.The aim of this audit was to assess whether the 17-OHP profile results are being appropriately used for adjustm...

Introduction: Fracture incidence is increased during and after treatment for childhood acute lymphoblastic leukaemia (ALL). Studies using DXA, which measures a composite of both trabecular and cortical bone mineral density (BMD), have shown reduced BMD during treatment. We therefore used peripheral quantitative computed tomography (pQCT) to investigate changes in compartmental (cortical and trabecular) volumetric BMD (vBMD) and bone geometry, and evaluated the influence of tre...

Introduction: Post-traumatic hypopituitarism (PTHP) is a recognised sequel of traumatic brain injury (TBI), occurring in 25–69% of adult patients, but there are few data on the prevalence or natural history in childhood. Our aim was to determine pituitary function in children at least 4 years after TBI requiring paediatric intensive care unit (PICU) admission. At the same time body composition was evaluated.Methods: Children discharged from the regi...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

Introduction: Congenital lipoid adrenal hyperplasia (CLAH) is rare and caused by mutations in the steroidogenic acute regulatory (STAR) gene, which is involved in a key step in the synthesis of pregnenolone from cholesterol. Cases typically present in the first days of life with severe adrenal crisis, salt wasting and severely disrupted androgen secretion which may result in sex reversal in 46, XY individuals.Case report: We present a 21-month-o...