Endocrine Abstracts

Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterised by low or absent cortisol production secondary to low plasma ACTH despite the absence of structural pituitary defects and normal secretory indices of other pituitary hormones. When tested, there is often no ACTH response to exogenous CRH. Onset may occur in the neonatal period, but often is first observed in later childhood. Candid...

Background: Adrenal cortical carcinoma (ACC) in children is a rare and aggressive disease. Further characterisation of the presenting features and biochemical markers are needed to support earlier diagnosis. Refractory hypertension related to high cortisol concentrations at presentation, and post-operative decrease in cortisol can be challenging to manage. Focus on endocrine management has not been previously described.Case Series: 34 patients (age 2 wee...

Introduction: Hypothalamic obesity (HyOb) is a rare form of treatment-resistant morbid obesity associated with hypothalamic damage. Its pathophysiology is incompletely understood, and is associated with hyperphagia and hyperinsulinaemia. We sought to compare the physiology of various appetite-regulating hormones in HyOb and ‘simple’ obesity.Methods: Oral glucose-stimulated serum insulin and plasma oxytocin concentrations, and fasting concentrat...

Objectives: Current provocative tests for GH deficiency (GHD) are neither 100% sensitive nor specific. GH neurosecretory dysfunction (NSD) refers to the presence of growth failure, normal stimulated GH responses, but impaired spontaneous GH secretion. We describe our experience in managing GHNSD over 7 years.Methods: We retrospectively reviewed a cohort of 106 children admitted for 12-h overnight GH profiles (with 20-min sampling) between 2010 and 2016. ...

Congenital hypogonadotropic hypogonadism (CHH) is a pathological condition characterised by lack of pubertal onset and must be differentiated from self-limited delayed puberty (SLDP). There is a significant overlap between these two conditions both in clinical and biochemical features, with current diagnostic approaches lacking sensitivity. Thus, paediatric endocrine clinicians are faced with difficulty in ascertaining the correct diagnosis in adolescence. The presence of cert...

Background: Homozygous mutations in STAT5B result in GH insensitivity and immune dysfunction. Heterozygous dominant negative mutations have not been described.Aims and objectives: To assess STAT5B sequence in children selected for a phenotype suggestive of Stat5b deficiency. To further characterize genomic STAT5B variants in two families.Methods: Selection of children from a tertiary Paediatric Endocrine ...

Introduction: Hyperparathyroidism (HPT) in children is rare with limited outcome measures post surgery.Methods: Retrospective case review of 26 (14M) children (<16 years) who underwent parathyroidectomies (PTx) between 1978 and 2011.Results: Twenty-six children (14M, 12F) included six neonates with neonatal severe HPT (NSHPT) and 20 older children with HPT (13 sporadic, 7 familial).All NSHPT neonates were...

Background: GH deficiency is associated with reduction in IQ and neural volumes (globus pallidum and thalamus). Significant relationships between IGF1, IGFBP3 and brain volumes have also been described in children born extremely preterm (total brain volume and cerebellum). No published studies report the relationship between markers of GH status and brain volumes in healthy children.Methods: Cognitive assessment, MRI brain and measurement of IGF1 and IGF...

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

Background and aim: The development of the pituitary gland is closely linked to this of the eyes and forebrain, as they all originate from the same embryonic origin, the anterior neural ridge. The constellation of symptoms leading to septo-optic dysplasia (SOD) is well established; other ophthalmic signs may be under-reported. The aim of the study was to define if patients with hypopituitarism present with eye abnormalities, which are distinct from SOD, and if this association...