Boy with central precocious puberty probably due to a peripheral cause.

Area of Science:

• Pediatric Endocrinology
• Reproductive Medicine
• Genetics and Genomics

Background:

• Central precocious puberty (CPP) involves early activation of the hypothalamic-pituitary-gonadal axis.
• Congenital adrenal hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, often leading to hormonal imbalances.
• The co-occurrence of CPP and CAH in boys is exceptionally rare.

Observation:

• A 6.5-year-old Indian boy presented with accelerated phallic growth since age 2.
• Physical examination revealed a significantly enlarged penis, advanced pubic hair development (Tanner stage 3), and a bone age of 12 years.
• Hormonal evaluation confirmed pubertal levels of testosterone and gonadotropins, indicative of CPP.

Findings:

• The hormonal profile incidentally suggested congenital adrenal hyperplasia (CAH).
• The case presents a rare association of central precocious puberty (CPP) likely secondary to congenital adrenal hyperplasia (CAH) in a male child.
• This highlights the importance of comprehensive hormonal assessment in cases of precocious puberty.

Implications:

• This case underscores the need to consider CAH in the differential diagnosis of CPP in boys, even when rare.
• Early identification and management of CPP and CAH are vital for optimal physical and psychological development.
• Further research may elucidate the specific mechanisms linking CAH to CPP in pediatric populations.