Endocrine Abstracts

Introduction: Chronic autoimmune hypophysitis is a rare disorder characterised by prolonged inflammation of the pituitary gland, with the commonest subtype being lymphocytic hypophysitis. It is often associated with hypopituitarism and is exceedingly rare in the paediatric population. Here, the authors present a novel case of asymptomatic, chronic hypophysitis in a paediatric patient in association with juvenile idiopathic arthritis (JIA). Case report: A...

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,...

Patients with central diabetes insipidus (CDI) and concurrent hypothalamic adipsia can experience significant sodium fluctuations requiring prolonged, recurrent hospital admissions and frequent serum sodium testing. We report a case of a 13-year-old male with adipsic CDI where the use of a point of care sodium analyser at home to titrate fluid and desmopressin administration resulted in stabilisation of his serum sodium, prevention of unplanned hospital admissions and improvem...

Introduction: Low-grade gliomas (LGGs) are the commonest benign childhood brain tumour and typically affect the optic tracts, chiasm and suprasellar diencephalon, thus potentially causing serious neuroendocrine deficits from tumour mass or treatment effects. In the absence of any major studies, we sought to comprehensively evaluate patient-, disease- and treatment-related risk factors for neuroendocrine morbidity in a large single-centre survivor cohort treated by varied, prim...

Background: Lowe Syndrome is an X-linked recessive genetic disorder caused by OCRL gene mutations, which impair intracellular trafficking processes. Signs are multisystemic, including congenital cataracts, intellectual disability and proximal renal tubulopathy. Short stature is a common association, often attributed to chronic kidney disease through childhood. However, recent evidence suggests that the hypothalamo-pituitary-somatotroph axis may play a role. <p class="abste...

Introduction: Low-grade gliomas (LGGs) are the commonest benign childhood brain tumour and typically affect the optic pathway and diencephalon, thus potentially causing serious neuroendocrine deficits from tumour and/or treatment. We have previously presented a preliminary analysis of risk factors for neuroendocrine morbidity in our 30-year cohort of LGG patients at Great Ormond Street Hospital, and now present comprehensive results of the completed dataset.<p class="abste...

Background: Increased childhood cancer survival has resulted in an accruing cohort faced with potential infertility. We have previously shown that sperm cryopreservation is acceptable to 70–80% of adolescents and testicular volume, LH and testosterone concentrations positively predict success in ~33% that bank. However, little is known about semen characteristics in relation to age and puberty. Here, we present data on our subcohort of 79 boys who produced a semen sample ...

Introduction: In children, BRAF (e.g. dabrafenib) and MEK (e.g. trametinib) inhibitors are used to treat a range of tumours including low-grade gliomas, Langerhans cell histiocytosis (LCH), and plexiform neurofibromas. However, the ubiquitous nature of the BRAF/MAPK/MEK pathway in various physiological processes means that these treatments are not without their own side effects such as renal tubulopathies (causing hyponatraemia) and hyperglycaemia.Aim: T...

Background: The standard synacthen test (SST) is commonly utilised to interrogate the hypothalamo-pituitary-adrenal (HPA) axis in children. It comprises baseline and 30-minute serum cortisol concentrations (SCC), after injecting synthetic adrenocorticotropic hormone (ACTH)[1–24]. There is debate regarding the utility of a 60-minute SCC in the SST protocol with most studies to date conducted in adults.Aim: To assess the utility of a 60-minute SCC in ...

Introduction: Non-classical congenital adrenal hyperplasia (NCCAH) is a common autosomal recessive disorder characterized by androgen excess. It classically presents in later life with symptoms of acne, hirsutism, and premature adrenarche. This case illustrates a rare case presentation of NCCAH in early infancy.Clinical case: An 18 day old term male infant was brought to the A&E for 9% weight loss. On review he was mottled, but otherwise examination ...