Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty.

Area of Science:

• Pediatric Endocrinology
• Neurodevelopmental Disorders
• Genetics

Background:

• Autism spectrum disorder (ASD) and developmental delay are common in pediatric practice.
• Aggressive behavior presents a significant challenge in managing children with ASD.
• Precocious puberty, particularly male-limited forms, requires careful endocrine and developmental assessment.

Observation:

• A 4-year-old boy with severe ASD and developmental delay exhibited increasing aggressive behaviors.
• He was diagnosed with peripheral precocious puberty due to a heterozygous D578G mutation in the LHCGR gene, causing Familial Male-Limited Precocious Puberty (FMPP).
• Initial treatment for hyperandrogenism with bicalutamide and anastrazole led to a marked intensification of aggressive behaviors.

Findings:

• The D578G mutation in the LHCGR gene causes constitutive activation of the LH receptor, leading to FMPP.
• FMPP is characterized by early onset of puberty in males, including rapid growth and advanced bone age.
• Treatment of hyperandrogenism in this case was unexpectedly associated with worsening behavioral symptoms, including aggression and biting.

Implications:

• This case highlights the complex interplay between hormonal imbalances and neurodevelopmental disorders.
• The intensification of aggression following treatment for hyperandrogenism suggests a potential neurobiological link that warrants further investigation.
• Further research is needed to understand the mechanisms underlying this phenomenon and to develop effective behavioral management strategies for children with both FMPP and ASD.