When Short Stature Meets Early Puberty: a case of ACAN Mutation
Welcome to the PediPro video series, where clinical insights meet real-world
pediatric care. In this 17th case, Dr. Balaji Chinnasamy discusses a 6-year-old boy with early pubertal changes starting at age three. Evaluation confirmed central
precocious puberty, and genetic testing revealed a heterozygous ACAN mutation. The child was treated with GnRH analogue therapy (leuprolide) to slow pubertal progression and preserve adult height. This case
highlights the importance of genetic evaluation, timely hormonal therapy, and long-term monitoring in precocious puberty.
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