Etiological profile and clinical spectrum of delayed puberty in adolescents at a Tertiary Care Center.

Abstract

Objective: To determine the etiological profile and clinical spectrum of delayed puberty among adolescents presenting to a tertiary care center. Study Design: Descriptive, Cross-sectional study. Setting: Department of Paediatric Endocrinology, National Institute of Child Health (NICH), Karachi, Pakistan. Period: 1^st November 2025 to 15^th January 2026. Methods: A total of 125 adolescents aged 12–18 years with delayed puberty were included. Clinical assessment included Tanner staging, anthropometry, hormonal profiling, and bone age evaluation. Data were analyzed using SPSS v26, while chi-square test or fisher’s exact test was applied to determine association between categorical data, taking p<0.05 as significant. Results: Among 125 adolescents, the median age was 15.0 (14.0–16.0) years, and 74 (59.2%) were boys. Underweight was recorded in 30 (24.0%), short stature 78 (62.4%), family history of delayed puberty 61 (48.8%), growth faltering 44 (35.2%), and dysmorphic features in 21 (16.8%) adolescents. Etiologies included constitutional delay of growth and puberty (CDGP) in 43 (34.4%), hypogonadotropic hypogonadism 32 (25.6%), hypergonadotropic hypogonadism 28 (22.4%), chronic disease related delay 13 (10.4%), and hypothyroidism 9 (7.2%). CDGP was significantly more frequent among boys 33 (44.6%), than girls 10 (19.6%) (p=0.007). Family history had significant association with CDGP (p<0.001), systemic symptoms with chronic disease (p<0.001), dysmorphism with hypergonadotropic hypogonadism (p<0.001), and bone age delay ≥2 years with CDGP (p<0.001). Conclusion: Delayed puberty in adolescents presenting to tertiary care showed a heterogeneous etiological profile and a wide clinical spectrum, ranging from constitutional delay to hypogonadism, and secondary causes related to chronic systemic illness, and thyroid dysfunction.