PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1.

Area of Science:

• Pediatric Endocrinology
• Neurodevelopmental Disorders
• Genetic Disorders

Background:

• Prepubertal gynecomastia necessitates investigation for underlying conditions.
• Autism spectrum disorder (ASD) can present with various co-occurring medical issues.

Observation:

• A 12-year-old boy with ASD presented with bilateral breast development.
• Family history revealed gynecomastia, early-onset cataracts, delayed puberty, and myotonic dystrophy type 1.
• Physical exam showed prepubertal gynecomastia (Tanner stage 1) with normal neurological findings.

Findings:

• Hormonal analysis indicated elevated estradiol levels and an increased estradiol/testosterone ratio.
• Molecular testing confirmed myotonic dystrophy type 1 (DM1) by identifying mutations in the dystrophia myotonica protein kinase gene.
• Endocrine diseases were excluded as the primary cause.

Implications:

• This case underscores the importance of considering DM1 in prepubertal boys with gynecomastia and neurodevelopmental symptoms.
• Comprehensive evaluation for endocrine and genetic disorders is crucial for managing prepubertal gynecomastia.
• Early diagnosis of DM1 can facilitate timely intervention and management of associated symptoms.