Endocrine Abstracts

Background: Hypoglycaemia is a common presentation in paediatrics, linked to rare endocrine pathologies. This case highlights potential pitfalls when assessing and managing a child with hypoglycaemia.Presenting problem: A 15-year-old, previously well female, presented with significant hypoglycaemia (2.2 mmol/l). A hypoglycaemia screen was performed which revealed an inappropriately low cortisol (111nmol/l), she was therefore treated for adrenal insuffici...

11-beta-hydroxysteroid-dehydrogenase type 2 deficiency (11bHSD2) or syndrome of apparent mineralocorticoid excess is an autosomal recessive condition that characteristically presents with hypokalaemia and hypertension. In this condition, cortisol is not inactivated to cortisone and thus the excess cortisol cross reacts with the mineralocorticoid receptors in the kidney leading to hypertension, hypokalaemia and suppressed plasma renin activity (PRA) and aldosterone levels. The ...

Introduction: McCune Albright syndrome (MAS) is characterised by at least 2 of 3 features: polyostotic fibrous dysplasia (FD), café-au-lait skin pigmentation and autonomous endocrine hyperfunction. Growth hormone excess if present (GH) can worsen symptoms of FD.Case report: A 3 year old girl presented with vaginal bleeding. A single café-au-lait patch was present (3 cm). A diagnosis of MAS was made, with a c.601>T mutation found in the GNAS...

Background: Bone age assessment is used in the management and monitoring of treatment effects in growth disorders. This may be associated with a considerable variability between reporters. This subjectivity has raised questions about acceptable levels of error in our current practice and has led us to search for other tools for assessing bone ages.Method: A single observer was trained in reporting bone ages using Tanner Whitehouse 3 atlas and these resul...

A 7.7 year old girl born to consanguineous was assessed for poor growth; height −3.2 SDS, weight −2.7 SDS, BMI −0.8 SDS. Examination revealed chubby cheeks, abdominal obesity, relatively thin limbs and a suggestion of mid-face hypoplasia. There was no scoliosis or other dysmorphic features.Investigations found a 46XX karyotype and negative coeliac screen. Pituitary function testing revealed high basal Growth Hormone (GH) of 6.5 ug/l, ri...

17 β-Hydroxysteroid Dehydrogenase Type 3 (17β-HSD3) deficiency is an autosomal recessive condition causing 46, XY disorder of sexual development (DSD). The enzyme is responsible for converting of Δ4-Androstenedione (A) to testosterone (T) in testicles. Affected individuals may present with abnormalities of the external genitalia at birth or during childhood and teenage years with virilisation or primary amenorrhea. The aim of this case series is to review the cl...

Adrenal insufficiency (AI) is characterised by a lack of cortisol production from the adrenal glands. This can be a primary adrenal disorder or secondary to adrenocorticotropic hormone (ACTH) deficiency or suppression from exogenous glucocorticoids. Symptoms of AI in children may initially be non-specific and include growth faltering, lethargy, poor feeding, abdominal pain, vomiting and prolonged recovery from infections. AI is treated with replacement doses of hydrocortisone,...

Continuous glucose monitoring (CGM) allows continuous real-time blood glucose monitoring and informs users of blood glucose trend data and alarms which warn users of high or low blood glucose readings. Current evidence suggests that CGM can reduce episodes of hypoglycaemia in conditions such as congenital hyperinsulinism and metabolic disorders. Hypoglycaemia secondary to these conditions is serious with almost 50% of children demonstrating neurological impairments as a result...

Case report: An 11-year-old boy presented with an increasingly waddling gait and backache. He had been born small for gestational age (BW 1.8kg; -4.7 SDS) and had a history of dyspraxia and autism. He reported reasonable dairy intake and had no history of previous fractures or clinical signs of osteogenesis imperfecta (OI). Spinal imaging revealed multiple vertebral fractures. Malignancy and systemic inflammatory causes were excluded. An OI gene panel revealed a single pathoge...

Introduction: An 18 day old term male baby presented with faltering growth and hyponatraemia. Extensive investigations suggested the cause of hyponatraemia was water excess which may result from either overproduction of Antidiuretic hormone (SIADH) or the nephrogenic syndrome of inappropriate antidiuresis (NSIAD). Genetic testing demonstrated a hemizygous mutation in the AVPR2 gene.Case report: The infant presented with 8% weight loss and hyponatraemia (...