Abstract Search

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....

0 shares

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...

1 shares

Endocrine Abstracts

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

Novel association of NUP107 variants in XY DSD

BiosciAbstracts