Searchable abstracts of presentations at key conferences in endocrinology

ea0095p58 | Miscellaneous/other 1 | BSPED2023

Endocrine presentation of a renal disorder

Hawkes Emma , Kumbattae Uma

Endocrine presentation of a renal disorder. Baby boy born at full term with Birth weight of 4.3 kg and discharged the next day. Baby initially breastfed but losing weight. Advised combination feeding with expressed breast milk and formula milk. Even after increasing feed volume by health visitor baby losing weight. On Day 28 was admitted to the ChildrenÂ’s Assessment Unit following a health visitor referral. Baby had a 2 day history of abdominal discomfort and loose stools...

ea0095p73 | Pituitary and Growth 1 | BSPED2023

Significance of targeted gene panel sequencing in early childhood growth failure

Edavana Shaju , Kumbattae Uma , Hawkes Emma

Early childhood growth failures are associated with significant diagnostic and therapeutic implications. Testing for a panel of genes associated with a poor growth has identified a diagnosis of 3M syndrome. Index case was born at 36 weeksÂ’ gestation with a birth weight of 1.88 kg (>2nd centile) and length 40 cm (<0.4 the centile) with head circumference 45 cm on 50th centile. Her initial assessment noted severe intrauterine growth retardation pattern. She had norm...

ea0095oc4.3 | Oral Communications 4 | BSPED2023

Primary adrenal insufficiency with muco-candidiasis- a rare cause of familial glucocorticoid deficiency due to thioredoxin reductase deficiency

Edavana Shaju , Bajpai Anurag , Hawkes Emma , Kumbattae Uma

A 11-year 10-month boy born of non-consanguineous marriage presented with recurrent oral and respiratory tract infections and failure to thrive from the age of one year. He was born at term with a birth weight of 3.5 kg with an uneventful perinatal period. The parents noticed recurrent oral infections with the whitish curd-like layer deposited over the oral mucosa. They also complained of gradual skin darkening, easy fatiguability, and growth failure over the last three years....