Endocrine Abstracts

Introduction: Concerns around puberty are a common cause of paediatric endocrinology referrals. This study reviews outcomes of children referred with possible signs of puberty and then provides longitudinal follow up to ascertain the final diagnosis (e.g. premature adrenarche, thelarche, congenital adrenal hyperplasia, or central precocious puberty (CPP))

Aims and Objective: The aim was to document the number of children who had a variation of normal puberty, or pathological conditions and the types of investigations undertaken. A secondary objective was to evaluate common themes that may allow investigations to be streamlined.

Methods: This retrospective cohort analytic study at Bradford Teaching Hospitals reviewed males (0-9 years) and females (0-8 years) referred with signs of puberty from Jan 2015 to Dec 2019. Data from electronic records included patient demographics, blood tests, radiology results, and final diagnoses.

Results: 37 children were referred with concerns about early puberty. Of these, 30 (81%) were females and 7 (19%) were males. The median age of referral was 7.4 years (range 1.1 to 8.8 years). 26 (70%) had normal pubertal variants, while 11 (30%) showed signs consistent with CPP. For the 11 cases with CPP, 8 (70%) were idiopathic, and 3 (30%) revealed structural brain abnormalities on MRI scans. Out of the 30 girls presenting with early pubertal signs, 15 (75%) had premature adrenarche, 5 (25%) had isolated thelarche, and 10 (33%) were diagnosed with CPP. Among the 7 males showing early signs of puberty, 6 (86%) displayed adrenarche, whereas one was diagnosed with central precocious puberty (CPP). All males presented with secondary sexual hair development and 5 (71%) had tall stature.

Conclusion: This study provides a contemporary update on the range of presentations and final diagnoses in children presenting with concerns about early / precocious puberty. Premature adrenarche accounts for around two-thirds of the referrals, and CPP for the other third. Ongoing research is extending these findings.