Endocrine Abstracts

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 ...

Background: SPT are late effects of childhood PFBT. Low dose radiation scatter at the edge of craniospinal field has traditionally been blamed for meningiomas and thyroid tumours but the effect of chemotherapy, genetic predisposition and GH replacement on their prevalence is less clear.Methods and aims: As part of a descriptive study of long term (>10 years) functional, endocrine and cognitive outcomes in 36 (20 males) adults aged 21.2 (16–32) y...

Introduction: Pituitary adenomas (PAs) account for <3% of all paediatric supratentorial tumours. Despite being benign, they can cause significant tumour- and treatment-related neuroendocrine and visual morbidity. Patients may be the index case for syndromes such as multiple endocrine neoplasia type 1 (MEN1).Case report: Patient R was referred at 11.9 years with longstanding headaches and bilateral visual deterioration to the point of near-blindness. ...

Mutations in CYP11A1, like those in STAR cause lipoid congenital adrenal hyperplasia manifesting with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system. Increased adrenal size is usually a feature of STAR but not of CYP11A1 mutation. Milder forms presenting without all of these features have also been described. We present six patients from four families with CYP11A1 mutations discovered by ...

Introduction: Thickened pituitary stalk (TPS) and/or idiopathic central diabetes insipidus (ICDI) are rare in childhood, presenting to different (endocrine, oncology, ophthalmology) specialties. In the absence of other diagnostic features, agreed radiological definitions, biopsy (often too dangerous) or consensus management guidance, subsequent surveillance and treatment are uncertain. Cases may remain undiagnosed or evolve over decades.Aims: i) To longi...

Background: Phaeochromocytoma/paraganglioma (PCC/PGL) are rare in children and young people (CYP) under 19 years of age. National registry data reveal an annual incidence between 0.2 and 0.3 per million in 5–9 and 10–14 year age groups respectively. Almost all result from a genetic predisposition and can present a significant management challenge.Aims: We aimed to provide the first interdisciplinary management guidelines using the AGREEII frame...

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

Background: Glucagon (GST) is used as an alternative to insulin (ITT) to diagnose GH deficiency (GHD) and adrenal insufficiency (ACTHd). However the peak cortisol response to diagnose adrenal insufficiency varies (550, and 500 nmol/l), has been extrapolated from adults undergoing intraoperative stress and not fully validated.Aim: To determine the peak cortisol ‘cut off’ level which most accurately predicts clinically significant adrenal insuffi...

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...