Burosumab treatment improves rickets and prevents decline in growth in young children with X-linked hypophosphataemia, show the findings of an open-label phase II study.
Researchers report sustained improvements in skeletal mineralisation, along with other benefits including improved growth and respiratory function, in children with life-threatening perinatal or infantile hypophosphatasia during 7 years of treatment with asfotase alfa.
Tongue lesions, gastrointestinal problems and musculoskeletal complaints are the most common symptoms for which children are investigated in the years leading up to a multiple endocrine neoplasia type 2B diagnosis, say researchers.
The Endocrine Society has released updated guidelines for the management of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency.
Boys who have normal or minor abnormalities of their external genitalia despite a 45,X/46,XY karyotype have complications including reduced fertility, report researchers.