Endocrine Abstracts

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 weeks’ 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...

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....

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...

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....