Endocrine Abstracts

Case history: We report 7 weeks old with central diabetes insipidus, holoprosencephaly (HPE), immunodeficiency and severe colitis. She was first admitted with severe diarrhoea and hypernatremia. A diagnosis of central diabetes insipidus (CDI) was made and she was commenced on subcutaneous desmopressin (DDAVP). Her initial hypothalamic–pituitary axis (HPA) was normal (ACTH 10 ng/l, cortisol 635 nmol/l, GH 23 μg/l and TSH 3.30 μ/l). However repeated cortisols and ...

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 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 optic nerve hypoplasia (ONH)...

Recent advances in our knowledge of pituitary development, acquired mainly from animal models, have enhanced our understanding of the aetiology of isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). A number of developmental genes known to be important for organ commitment and cell differentiation and proliferation (HESX1, LHX3, LHX4, PROP1 and PIT1) have been implicated in CPHD with or without other sy...

Aims: Recent evidence suggests that Growth Hormone Deficiency (GHD) may be associated with cognitive impairment in adults. These findings are supported by neurobiological studies documenting the presence of GH receptors in many regions of the brain, including the hippocampus and the prefrontal cortex. However to date no comprehensive investigation of the cognitive sequelae of growth hormone deficiency in children has been undertaken. We aimed to determine the effect of GHD on ...

Introduction: A number of different parameters are used to assess adequacy of treatment in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hydrocortisone day curves are established practice in our unit. To determine the value of this procedure, outcomes were monitored using the European Society for Paediatric Endocrinology 2002 guidelines for the management of 21-hydroxylase deficiency.Methods: Two hourly cortisol profiles ...

Introduction: The management of Craniopharyngioma is associated with significant long-term morbidity. We retrospectively assessed the endocrine, hypothalamic and neuro-developmental morbidity (at most recent clinic review) in survivors of Craniopharyngioma diagnosed between 1/01/98 and 31/12/09, and currently being managed at our centre.Methods: We identified 63 patients in our cohort of which 25 were randomly selected for analysis (11 males, 14 females)...

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

Activating mutations in the gene encoding β-catenin have been identified in the paediatric form of human craniopharyngioma (adamantinomatous craniopharyngioma, ACP), an aggressive pituitary tumour accounting for up to 10% of paediatric intracranial tumours. Recently, we generated an ACP mouse model and revealed that, as in human ACP, nucleocytoplasmic accumulation of β-catenin (βcat-nc) and over-activation of the Wnt/β-catenin pathway occurs only in very fe...

Background: Premature pubic hair development, with or without manifestations of androgen production, is a common clinical presentation. Premature adrenarche (PA) needs to be differentially diagnosed from congenital adrenal hyperplasia (CAH) and may be associated with early development of puberty.Aim: To study the characteristics at presentation, endocrine profile and outcome of patients who presented with premature pubic hair development. We studied retr...