Endocrine Abstracts

Craniopharyngiomas and pituitary adenomas are the most common benign tumours occupying the pituitary fossa. Neoplastic or infiltrative processes of the pituitary area, such as gliomas arising from the optic chiasm and surrounding region, germ cell tumors from the pituitary stalk, and granulomatous diseases, are less common. Pituitary adenomas are classified according to size, functional status, primary cell origin, and hormone secretion (Prolactin, GH, ACTH, TSH and gonadotrop...

Introduction: SACT are rare in childhood and present with variable signs depending on the type of hormone excess. We describe the unusual presentation of a teenager with SAT presenting with slow progressing puberty.Methods: A pre-menarchal 13.5 years old girl with high BMI (28 kg/m2) presented with slow progressing puberty. She started her puberty at least 3 years previously with breast changes, then progressed to develop pubic and axillary ha...

Background: About one in 3000 babies born in the UK have congenital hypothyroidism (CHT), which is usually due to an agenesis of the thyroid gland, but some are due to dyshormogenesis, which can be transient or permanent.Method: Retrospective analysis of medical notes of infants referred as ‘suspect’ congenital hypothyroidism from the newborn blood spot screening centre to the paediatric endocrinology service at our hospital from January 2002 t...

Thyroid hormone is absolutely necessary for early brain development.Incidence of thyroid disorders in infancy is 1:4,000.Thyroid hormones can be deficient through hormone synthesis and action or very rarely through defective transport. Some new and exciting transporters for tri-iodothyronine (T3) have recently come to light.MCT 8 gene encodes the protein that transports T3 into neurons. Its mutation result in inability of T3 to enter a developi...

The nuclear receptor steroidogenic factor 1 (SF1/AdBP4/FTZF1, NR5A1) is a key regulator of adrenal and gonadal development, steroidogenesis and reproduction, and targeted deletion of Nr5a1 (Sf1) in the mouse results in adrenal and gonadal agenesis, XY sex-reversal and persistent Müllerian structures in males. Consistent with this phenotype, DNA-binding mutations in SF1 have been reported in two 46,XY female patients with primary adrenal failure and uterine s...

Aims: Although rare, craniopharyngiomas are the commonest suprasellar tumour in childhood. Despite high overall survival, children and young people <19 years with craniopharyngiomas are at risk of multiple relapses and long-term tumour- and treatment-related morbidity. We sought to provide, for the first time, a national standard for best practice based on currently available evidence for the assessment, treatment and follow-up of paediatric craniopharyngiomas under the au...

Objectives: In 2010 we piloted a national multidisciplinary (MDT), meeting virtually to improve management of rare suprasellar (HPAT) tumours. In 2014 we reported centralised treatment decision-making in craniopharyngioma and now wished to examine whether centre based management of idiopathic thickening of the pituitary stalk (iTPS) differs and can be streamlined by wider debate. This might also inform current commissioned BSPED and CCLG guidance.Methods...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to Thyroid Hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.Results: A 6-year-old...

Introduction: Thyroid hormones act via receptors encoded by different genes (THRA and THRB) generating receptor subtypes (TRα1, TRβ1, TRβ2) with differing, tissue-specific expression. Resistance to thyroid hormone due to THRB defects is well recognised, but no THRA mutations have yet been reported. We describe the first case of human TRα-mediated thyroid hormone resistance due to a dominant negative THRA mutation.<p cl...