Publication:

Clinical and genetic profile of children with delayed puberty: a tertiary care hospital experience

Background Delayed puberty is defined as the absence of pubertal onset by 13 years in girls and 14 years in boys. It may result from constitutional delay, hypothalamic-pituitary disorders, or primary gonadal failure. Early identification of the underlying cause is essential for timely treatment and improved psychosocial outcomes. This study aimed to evaluate the clinical and genetic profile of children presenting with delayed puberty in a tertiary care hospital.

Methods A retrospective descriptive observational study was conducted in the Department of Paediatric Endocrinology from June 2019 to June 2026. Children aged 13-18 years with delayed puberty and complete medical records were included. Demographic details, clinical features, anthropometry, hormonal investigations, imaging, genetic testing, diagnosis, and treatment modalities were analysed.

Results A total of 42 adolescents were included, comprising 27 females (64.3%) and 15 males (35.7%). Consanguinity was present in 25.6%, and family history of delayed puberty in 29.3%. Among girls, breast development was present in 81.5%, but menarche had occurred in only 3.7%. Among boys, testicular enlargement was present in 13.3%. Hypergonadotropic hypogonadism (HH) was the most common diagnosis (52.4%), followed by congenital hypogonadotropic hypogonadism (CHH) (28.6%) and constitutional delay of growth and puberty (CDGP) (11.9%).

Conclusions Comprehensive clinical, hormonal and genetic evaluation is crucial for accurate diagnosis and individualized management.