Case Reports
A rare occurrence of central precocious puberty in adrenal hypoplasia congenita
Authors:
Rajesh Joshi ,
B. J. Wadia Hospital for Children, Mumbai, IN
About Rajesh
Department of Paediatrics
Karthik Shroff
B. J. Wadia Hospital for Children, Mumbai, IN
About Karthik
Department of Paediatrics
Abstract
AHC (X-linked adrenal hypoplasia congenita) is a rare cause of adrenal insufficiency due to mutations in the DAX1 gene. It traditionally causes hypogonadotropic hypogonadism. We present a boy with AHC presenting with primary adrenal insufficiency at age of 1 ½ months and developing central precocious puberty (CPP) at 7 months. Common perception with DAX1 mutation is hypogonadism. Therefore, precocious puberty in an infant with adrenal insufficiency and in whom CAH is ruled out may deter the physician from further investigating the aetiology of primary adrenal insufficiency. Knowledge of such an uncommon presentation may guide the physician to test for DAX1 gene. This also gives a better insight into our understanding of the DAX-1 gene.
How to Cite:
Joshi, R. and Shroff, K., 2020. A rare occurrence of central precocious puberty in adrenal hypoplasia congenita. Sri Lanka Journal of Medicine, 29(1), pp.32–34. DOI: http://doi.org/10.4038/sljm.v29i1.136
Published on
18 Jun 2020.
Peer Reviewed
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