Abstract
Sri Lanka Journal of Medicine is the official journal of the Kandy Society of Medicine. It is a peer-reviewed journal currently published biannually. Original articles, reviews, brief reports, case reports, points of view, and letters to the editor, in all fields of medical science and practice are accepted for publication.The Sri Lanka Journal of Medicine is now indexed in DOAJ
Highlights
X-linked adrenal hypoplasia congenita (AHC) is a disorder which presents as a life-threatening adrenal crisis in infancy
We present a rare occurrence of central precocious puberty in an infant with primary adrenal insufficiency due to DAX1 mutation
congenital adrenal hyperplasia (CAH) being the closest differential of AHC, should be differentiated from it
Summary
X-linked adrenal hypoplasia congenita (AHC) is a disorder which presents as a life-threatening adrenal crisis in infancy. There are very few case reports describing children with DAX1 mutation presenting with precocious puberty- which is predominantly gonadotropin independent. We present a rare occurrence of central precocious puberty in an infant with primary adrenal insufficiency due to DAX1 mutation.
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