Central Precocious Puberty as the First Sign of Multisystem Involvement

Overview

This case study presents an 8-year-10-month-old male with central precocious puberty (CPP) as the primary manifestation of a novel heterozygous KMT2B mutation and hemizygous deletion of STS. The patient was successfully treated with GnRH analogue therapy, highlighting the need for comprehensive endocrine assessment in children with KMT2B-related disorders.

Background

Expand on the significance of CPP in KMT2B-related disorders and its clinical relevance.

Data Highlights

Key Findings

• Central precocious puberty can occur as the primary manifestation of KMT2B-related disorders.
• The patient exhibited distinctive craniofacial dysmorphism and ichthyotic scaling.
• A de novo heterozygous pathogenic variant in KMT2B was identified alongside a hemizygous deletion of STS.
• GnRH analogue therapy was effective in managing CPP, with stable physical signs at follow-up.
• Topical emollients significantly improved ichthyotic skin lesions.

Clinical Implications

Clinicians should consider comprehensive endocrine evaluations in children with KMT2B-related disorders to identify potential precocious puberty. Early intervention with GnRH analogues may be beneficial in managing CPP and associated symptoms.

Conclusion

Reiterate the need for awareness of atypical presentations in clinical practice.

Related Resources & Content

1. Frontiers in Medicine, 2026 -- Case Report: Homozygous KISS1R mutation associated with congenital hypogonadotropic hypogonadism in two siblings: pulsatile GnRH therapy restores pituitary architecture and induces pubertal development
2. The Journal of Clinical Endocrinology & Metabolism -- Genetic Factors and Frequency of de novo MEN2 Syndromes
3. The Journal of Clinical Endocrinology & Metabolism -- Gonadal Function Development in Individuals with 46,XX Testicular and Ovotesticular Disorders of Sex Development
4. The Journal of Clinical Endocrinology & Metabolism -- Management Strategies for Patients Diagnosed with Turner Syndrome
5. Central Precocious Puberty | Endocrine Society
6. Central Precocious Puberty | Endocrine Society
7. https://academic.oup.com/jcem/article/111/1/e306/8042905