Endocrine Abstracts

Lesions of the hypothalamus and pituitary stalk are rare in adolescence. Congenital and acquired, benign and malignant lesions occur, and the spectrum of diagnoses differs from that in adults, with inflammatory conditions occurring less frequently.Lesions that develop in the hypothalamus may extend to the pituitary and present with features of pituitary hormone deficiencies, including arrest of growth and puberty in the adolescent age group, or visual di...

Lesions of the hypothalamus and pituitary stalk are rare in adolescence. Congenital and acquired, benign and malignant lesions occur, and the spectrum of diagnoses differs from that in adults, with inflammatory conditions occurring less frequently.Lesions that develop in the hypothalamus may extend to the pituitary and present with features of pituitary hormone deficiencies, including arrest of growth and puberty in the adolescent age group, or visual di...

Growth hormone (GH) excess is extremely rare in children. It can be associated with endocrine syndromes including MEN1, Carney complex and Mc Cune Albright syndrome. We describe two cases of GH excess and their management. Patient A (15yr M) presented with fibrous dysplasia affecting his cranium and a large café-au-lait spot covering his right scapula. His height was 193cm (2.6 SDS) and BMI 29.6kg/m2(2.3SDS). His IGF1 was 84.1nmol/L (22.5 – 65.9) and GH did not suppr...

Background: The cardiovascular and metabolic outcomes of patients with AI are poor, and may be related to the non-physiological cortisol profile achieved with hydrocortisone treatment. Objectives: To describe salivary adrenal biomarkers, glucose and 24 hour ambulatory blood pressure (ABP) profiles, carotid intima media thickness (CIMT) and flow mediated dilatation (FMD) in CYP with primary AI, to improve knowledge of the relationship between non-physiolo...

Background: The term “neuro-cardio-facial-cutaneous (NCFC) syndrome” describes a group of phenotypically overlapping syndromes that result from germline mutations in genes of the RAS-MAPKinase pathway. This pathway plays a role in growth factor signalling and short stature is a consistent feature of NCFC syndromes. This diagnostic group includes Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome. Growth hormone (GH) has been used with good effect in NS. T...

Introduction: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders that arise from enzyme deficiencies in biosynthetic pathways of the adrenal. The most common enzyme deficiency, 21-hydroxylase deficiency, results in cortisol deficiency, androgen excess and variable aldosterone deficiency. Current guidelines recommend a standard dose short Synacthen test (SDSST) is performed between 24 and 48 hours of life, with measurement of corti...

Background: Cortisol is inactivated to cortisone in the salivary gland by 11β-HSD type 2. Concentrations of cortisone and cortisone in saliva correlate strongly with serum cortisol concentrations (1). Only free, biologically active hormone is measured in saliva, testing is non-invasive and can be performed at home/school, reducing cost and inconvenience to families and NHS resources. We previously reported pilot data from healthy children and young people (CYP) (1). Here we de...

Background: Hypoglycaemia, possibly due to non-physiological hormone replacement, and poor cardiovascular outcomes are described in patients with adrenal insufficiency (AI), particularly in the adult population. In this study, we describe glucose profiles and risk factors for premature cardiovascular disease (CVD) in children with secondary AI (SAI).Methods: Participants underwent continuous glucose monitoring (CGM), for seven days (blinded Dexcom G6 mon...

Background: Increased hair cortisol concentrations are reported in Turner Syndrome (TS) patients compared to healthy controls (HC).(1) Increased cortisol exposure could contribute to cardiovascular, metabolic and bone morbidity in TS. Hair cortisol concentrations give no information about the circadian profile of cortisol, which is important for cardiovascular health. Cortisol is inactivated to cortisone by 11β hydroxysteroid dehydrogenase (11βHSD) type-2 and regener...

Background: Hypocortisolaemia is common in neonates1 and infants following cardiac surgery.2 In critically ill children with other pathologies, hypocortisolaemia may result from accelerated cortisol metabolism and reduced protein binding. However, the timing and frequency of normalisation of cortisol concentrations following infantile critical illness is poorly described.Objective: To describe the natural history of hypocortisolaemi...