Endocrine Abstracts

Hydrocortisone therapy needs to be individualised in congenital adrenal hyperplasia (CAH) patients to avoid over and under replacement. Plasma cortisol concentration is determined by absorption and half-life of cortisol influence glucocorticoid exposure. Terminal plasma half-life is the time required to divide the plasma concentration by two and is important when absorption may vary.To ascertain a role for this measure we have studied 48 patients (21M) a...

Background: Salivary biomarkers are attractive diagnostic tools for paediatric practice, enabling non-invasive sampling at home. Salivary cortisol (SCl) and cortisone (SCn) are sensitive markers of adrenal insufficiency during inhaled corticosteroid treatment(1). SCn is reported to be the best correlate of plasma cortisol. Measurements of SCl may not be necessary, reducing cost and sample volumes.Eleven beta hydroxysteroid dehydrogenase type 2...

Introduction: The insulin tolerance test (ITT) and glucagon stimulation test (GST) stimulate the release of both growth hormone (GH) and cortisol. A normal cortisol response is considered to be >500 nmo/l, however there are no robust normative paediatric data. Cortisol results may generate anxiety and further investigations in short children, tested for GH deficiency, with no clinical suggestion of cortisol deficiency.Aim: To describe cortisol respon...

Androstenedione and 17OHP are often used as measures of cortisol replacement in congenital adrenal hyperplasia (CAH) rather than cortisol itself. Very little is known of the dose response relationships between cortisol and A4 and 17OHP.We have studied the relationship between 24 h serum cortisol, 17OHP and A4 in 33 (18M) children with CAH due to P450c21 deficiency. 24 h serum cortisol and 17OHP profiles were constructed using 20 min sampling intervals an...

Background: The low-dose short synacthen test (LDSST) is the most popular diagnostic test for adrenal insufficiency in UK. Although various dosing strategies exist 1 μg is most commonly employed but not commercially available. A BSPED survey revealed 14 different methods for diluting the 250 μg/ml ampoules. We investigated whether differing dilution strategies, made up using standard ward not laboratory equipment, result in differences in Synacthen dose administered....

A 1 month old baby boy presented at a local district general hospital with failure to thrive. He was born to non-consanguineous Eastern European parents, with an 18 month old healthy sister. The term birth was unremarkable, with nil of note from the antenatal history. Initial clinical examination revealed a slightly low but stable blood pressure for age, but was otherwise normal.Investigations: Biochemistry results showed low plasma sodium (125 mmol/l) a...

Introduction: Management of paediatric cortisol deficiency requires regular parent and child education and effective liaison with the emergency services. Best practice in the management of these patients is largely based upon local consensus. An annual steroid review service was introduced by the CNS team to provide education and improve parental understanding of the issues regarding cortisol deficiency in children. Emergency alert systems for the local children’s emergen...

Background: Ectopic-ACTH syndrome (EAS) is an extremely rare cause of Cushing’s syndrome in young children. The intensity of ACTH secretion and hypercortisolaemia is greater in EAS than in Cushing’s disease. Control of hypercortisolaemia represents a key management step while awaiting localization of the ACTH source or in preparation to surgery. Etomidate inhibits cortisol synthesis and its rapid onset of action makes it an ideal medication in severe hypercortisolaem...

Introduction: SACT are rare in childhood and present with variable signs depending on the type of hormone excess. We describe the unusual presentation of a teenager with SAT presenting with slow progressing puberty.Methods: A pre-menarchal 13.5 years old girl with high BMI (28 kg/m2) presented with slow progressing puberty. She started her puberty at least 3 years previously with breast changes, then progressed to develop pubic and axillary ha...

Introduction: Parents/carers of children with adrenal insufficiency routinely receive training on the provision of emergency hydrocortisone. This service improvement project aims to assess patient and parent knowledge on their sick day rules, in NHS Tayside, with a view to improving the delivery of this information.Methods: A 24 item postal questionnaire was constructed and distributed to parents of children with adrenal insufficiency. This included 11 s...

A 16 year old previously healthy boy from Manipur, India was admitted with rapid onset quadraparesis, vomiting and diarrhoea, on a background 3 month history of increasing facial puffiness and progressive widespread rash. Investigations revealed hyperglycaemia, hypokalaemia and a raised ESR. The basal serum cortisol was 103 μg/dl (n=7–22 μg/dl) at 0800 h. 24-h urinary free cortisol failed to suppress with 8 mg of dexamethasone. Plasma ACTH and serum ald...

Presentation and investigation: A 10-month-old girl presented with a bluish lump on the left side of her abdomen which was increasing in size. An abdominal mass was palpable on examination. An ultrasound showed a large, partly calcified mass measuring 9×6×9 cm arising from the left adrenal gland. There were also calcified lesions in her liver and lungs suggesting metastsis. MRI confirmed the ultrasound finding plus detected an intraspinal deposit with some cord compr...