Aim Evaluation of pubertal changes is an easily missed component in the assessment of the complex neurodisabled child .There is limited literature available in the UK regarding pubertal changes in these children. Available evidence suggests an earlier age of commencement of puberty and an increased incidence of precocious puberty in comparison with the general population. We aim to identify the characteristics of early pubertal changes amongst patients seen within a tertiary neurodisability setting.
Methods Retrospective data was collated from patients with neurodisability and premature pubertal changes who were seen over an 18 month period. Patients were evaluated through clinical examination and subsequently referred for endocrine assessment. Hormonal assays and bone age estimation were conducted where appropriate.
Results 13 children (male: female = 2:11) with neurodisability and early pubertal changes were identified. All 13 children had learning difficulties with the majority(84%) placed in special schools. CP(38%) and SLD of unknown origin(38%) were the most common underlying diagnosis. Age at presentation was 3–8.5 years (median age: boys = 5.75 years, girls = 6 years). Of the 11 girls, 54.5% (n = 6, median age: 4.7 years)were diagnosed with central precocious puberty and presented with thelarche and pubarche (tanner stage 2). They had advanced bone age and hormonal levels in pubertal range. 1 girl was diagnosed with idiopathic precocious puberty .The remaining children, 2 boys(mean age 5.75years) and 3 girls (mean age 6.8years) presented with isolated thelarche or pubarche ,had prepubetral sex hormone levels, normal or marginally increased bone age, normal or high adrenal steroid levels. These children were diagnosed with premature or exaggerated adrenarche and did not warrant treatment. Results of investigations are pending in 1 child. 6/7 children diagnosed with precocious puberty were treated with GNRH analogues (parents refused treatment for 1 child)
Conclusions In our review, true precocious puberty was identified in younger children as compared to older children who presented with isolated secondary sexual characteristics. A significant proportion of these children required hormonal treatment. Thus, assessment of pubertal changes should be an essential component of the multipronged evaluation of children with neurodisability.