Pediatric research
-
Reduced monocyte HLA-DR expression and increased neutrophil CD64 expression have been proposed as biomarkers of infection. ⋯ Monocyte HLA-DR and neutrophil CD64 expression in critically ill infants are related to age and infection.
-
Case Reports
A missense mutation in MKRN3 in a Danish girl with central precocious puberty and her brother with early puberty.
Idiopathic central precocious puberty (ICPP) results from the premature reactivation of the hypothalamic-pituitary-gonadal axis leading to development of secondary sexual characteristics prior to 8 y in girls or 9 y in boys. Since the initial discovery of mutations in the maternally imprinted MKRN3 gene in 2013, several case reports have described mutations in this gene in ICPP patients from different populations, highlighting the importance of MKRN3 as a regulator of pubertal onset. ⋯ Our results are in line with previous studies in which paternally inherited MKRN3 mutations have been found both in males and in females with ICPP or early puberty. Our report further expands the set of MKRN3 mutations identified in ICPP patients across diverse populations, thus supporting the major regulatory function of MKRN3 in pubertal onset.