Searchable abstracts of presentations at key conferences in endocrinology

ea0085p87 | Thyroid | BSPED2022

Congenital hypothyroidism due to PAX8 gene mutation – a case report

Agrawal Pankaj , R Kapoor Ritika , R Buchanan Charles , Schoenmakers Nadia , Bhushan Arya Ved

Introduction: Congenital hypothyroidism (CH) occurs 1 in 3,000-4,000 live-births. The causes of CH can be divided into two groups: thyroid developmental defects (thyroid dysgenesis) and inborn errors of thyroid hormone biosynthesis (dyshormonogenesis). Although mutations in paired box gene 8 (PAX8) usually cause thyroid dysgenesis, they have been reported in association with eutopic thyroid gland without function. PAX8 has been described to have a role in regulating the expres...

ea0095p88 | Adrenal 2 | BSPED2023

A case report of profound hyponatremia unveiling Addison’s disease

Agrawal Pankaj , Kapoor Ritika R , Buchanan Charles R , Arya Ved Bhushan

Introduction: AddisonÂ’s disease (AD) is a rare endocrine disorder in children, characterized by insufficient production of cortisol and aldosterone due to adrenal gland dysfunction. While electrolyte imbalances, including hyponatremia, hyperkalaemia, can occur in AD, severe hyponatremia is an unusual and challenging complication in children. We present a case of severe hyponatremia in a teenager diagnosed with AD.Case report...

ea0092ps3-26-02 | Thyroid hormone diagnostics 2 | ETA2023

Diverse clinical and laboratory phenotypes associated with heterozygous PAX8 mutations

Ravikumar Vikashini , Peters Catherine , Cerbone Manuela , Bhushan Arya Ved , Agrawal Pankaj , Katugampola Harshini , Langham Shirley , Schoenmakers Erik , Schoenmakers Nadia

Introduction: Paired box gene 8 (PAX8) is a key transcription factor required both for normal fetal thyroid development and maintenance of the differentiated thyroid phenotype, mediating transcriptional activation of SLC5A5, TG, and TPO, and synergizing with NKX2-1 at the TG promoter. Heterozygous PAX8 mutations are a rare but well-recognized cause of congenital hypothyroidism (CH) due to thyroid dysgenesis (TD), and are classically associated with thyroid hypoplasia. However,...

ea0078p59 | Pituitary and Growth | BSPED2021

Lymphocytic Hypophysitis: A rare entity in children - Case report

Agrawal Pankaj , Bhushan Arya Ved , Maratos Eleni , Bodi Istvan , Al Busaidi Ayisha , Wei Christina , Kapoor Ritika R , Aylwin Simon , Buchanan Charles R

Introduction: Pituitary inflammation (Hypophysitis) is rare in paediatric population and usually results in pituitary enlargement and hypopituitarism. Hypophysitis can be either primary (most commonly lymphocytic, granulomatous or xanthomatous disease) or secondary (consequent to systemic diseases, immunotherapy or alternative sella-based pathologies). We describe the clinical presentation and management of apparent primary lymphocytic hypophysitis in an adolescent girl. Case ...