Searchable abstracts of presentations at key conferences in endocrinology

ea0019p382 | Thyroid | SFEBES2009

Thyroidectomies in children

Joseph L , Holme N , Alvi S

Aim: Thyroidectomy is a common surgical procedure done in adults. However, thyroid surgery in children is infrequently undertaken. But due to genetic screening of families with multiple endocrine neoplasia (MEN) syndromes, more paediatric thyroidectomies are being performed. It is suggested that general and endocrine specific complications in children after thyroid surgery are higher than in adults. In this study we explored the indications for thyroidectomy and the post opera...

ea0017p31 | (1) | BSPED2008

A review of childhood thyroidectomies

Joseph L , Holme N , Alvi S

Aim: Thyroid surgery in children is infrequently undertaken, but due to genetic screening of families with multiple endocrine neoplasia (MEN) syndromes, more paediatric thyroidectomies are being performed. In this study we explored the indications for thyroidectomy and the post operative course and consequences of surgery carried out in our unit.Methods: Retrospective review of medical case notes of children who had either total or partial thyroidectomie...

ea0023p25 | (1) | BSPED2009

Diagnostic Challenges in Androgen Insensitivity Syndrome & 5 Alpha Reductase Deficiency

George E T , Alvi S , Taylor N K , Mushtaq T

Introduction: The clinical differentiation between androgen insensitivity syndrome (AIS) and 5 alpha reductase deficiency (5-ARD) can be difficult. Presenting features may be similar and initial investigations may still not be discriminatory.Methods: Case notes on a total of ten patients with the initial diagnosis of AIS or 5-ARD were retrospectively reviewed.Results: All ten children had a 46XY male karyotype. Four children were r...

ea0011p138 | Clinical case reports | ECE2006

Resolution of diagnostic uncertainties with DAX-1 gene mutation analysis

Arundel P , Fisher R , Chu C , Alvi S

Mutations in the DAX-1 gene are well described in patients with adrenal hypoplasia congenita (AHC) and hypogonadotropic hypogonadism but can be a useful tool in the elucidation of unusual or difficult cases of adrenal insufficiency. As the clinical presentation of congenital adrenal hyperplasia and AHC can be clinically identical, diagnosis in the neonate often depends on the levels of 17-hydroxyprogesterone (17-OHP). If these are unavailable or non-diagnostic, gene analysis c...

ea0024p3 | (1) | BSPED2010

Pseudohypoaldosteronism Type 1 in Infants: A UK Experience

Amin N L , Barth J H , Field H P , Frazer S , Finlay E , Tyerman K , Feather S , Fitzpatrick M , Saville G , Alvi S , Mushtaq T

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...

ea0027p28 | (1) | BSPED2011

Prophylactic thyroidectomy in children with MEN2 in the United Kingdom

Prete Francesco Paolo , Morkane Clare , Watkinson J , Shaw N , Alvi S , Squire R , Harrison B , Wales J , Clayton P , Morrison P , Carson D , Brain C , Hindmarsh P , Dattani M , Spoudeas H , Buchanan C , Albanese A , Amin R , Piero A , Kurzawinski T

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...

ea0095p81 | Adrenal 2 | BSPED2023

National service evaluation of care for children and young people with congenital adrenal hyperplasia in the UK: Survey responses from patients and clinicians

Lawrence Neil , Bacila Irina , Ji Xiaochen , Faisal Ahmed S , Alvi Sabah , Bath Louise , Blair Jo , Cheetham Tim , Crowne Liz , Davies Justin H , Dattani Mehul , Gevers Evelien , Krone Ruth , Patel Leena , Thankamony Ajay , Randell Tabitha , Ryan Fiona , Elford Sue , Blackett Sallyann , Krone Nils

Aim: To quantify difference in service provision for children and young people (CYP) living with CAH across the UK.Methods: A national service evaluation using online questionnaires circulated to patients and clinicians from secondary and tertiary UK centres managing CYP with CAH, and via the ‘Living with CAH’ support group mailing list.Results: Total of 195 responses rel...