Searchable abstracts of presentations at key conferences in endocrinology

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....

ea0095p44 | Gonadal, DSD and Reproduction 1 | BSPED2023

Novel association of NUP107 variants in XY DSD

Edavana Shaju , Yadav Viba , Bajpai Anurag , Andrews Afia

XY disorders of sexual development (DSD) are rare causes of primary amenorrhea and are associated with significant diagnostic and therapeutic implications. We report a novel association of compound heterozygous missense NUP107 variants in a girl with hypergonadotropic hypogonadism and XY karyotype. This 17-year-old girl born of consanguineous marriage presented with absent breast development and primary amenorrhea. Her past medical history included the surgical removal of an a...

ea0095p33 | Diabetes 2 | BSPED2023

Neonatal diabetes: A challenging case scenario and therapeutic considerations

Sathesh Kumar Sajithbhavan Kuttappan , Stuart Davision , Shaju Edavana , Casey Lambourne , Vicki Brown , Bev Anderson

Neonatal Diabetes: A Challenging Case Scenario and Therapeutic Considerations Neonatal diabetes is a rare form of diabetes mellitus that presents in the first six months of life. This abstract highlights a challenging case scenario of neonatal diabetes and provides insights into the diagnostic approach, therapeutic considerations, and long-term management strategies. The case involves a term male neonate who presented with severe hyperglycemia, polyuria, and failure to thrive....