Articles with "nr0b1 gene" as a keyword



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Pleomorphism of the HPG axis with NR0B1 gene mutation—a case report of longitudinal follow-up of a proband with central precocious puberty

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Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"

DOI: 10.1515/jpem-2021-0762

Abstract: Abstract Objectives X-linked adrenal hypoplasia congenita (AHC) is characterized by adrenal insufficiency and hypogonadotropic hypogonadism. Herein, we report a rare case of X-linked AHC with central precocious puberty (CPP). Case presentation An 11-month-old male patient… read more here.

Keywords: precocious puberty; longitudinal follow; nr0b1 gene; case ... See more keywords