Clinical and genetic profile of children with delayed puberty: a tertiary care hospital experience
DOI:
https://doi.org/10.18203/2349-3291.ijcp20262367Keywords:
Delayed puberty, Hypogonadotropic hypogonadism, Congenital hypogonadotropic hypogonadism, Constitutional delay of growth and puberty, Turner syndrome, Pediatric endocrinology, Genetic evaluation, Pubertal inductionAbstract
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.
References
Harrington J, Palmert MR. An approach to the patient with delayed puberty. J Clin Endocrinol Metabol. 2022;107(6):1739-50.
Howard SR, Dunkel L. Delayed puberty-phenotypic diversity, molecular genetic mechanisms, and recent discoveries. Endocrine Rev. 2019;40(5):1285-317.
Marshall WA, Tanner JM. Variations in the pattern of pubertal changes in boys. Arch Dis Childhood. 1970;45(239):13-23.
Marshall WA, Tanner JM. Variations in pattern of pubertal changes in girls. Archives of disease in childhood. 1969;44(235):291.
MR P, Dunkel L. Clinical practice. Delayed puberty. N Engl J Med. 2012;366:443-53.
Sedlmeyer IL, Palmert MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metabol. 2002;87(4):1613-20.
Varimo T, Miettinen PJ, Känsäkoski J, Raivio T, Hero M. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center. Human Reprod. 2017;32(1):147-53.
Boehm U, Bouloux PM, Dattani MT, De Roux N, Dodé C, Dunkel L, et al. European consensus statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nature Rev Endocrinol. 2015;11(9):547-64.
Bianco SD, Kaiser UB. The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism. Nature Rev Endocrinol. 2009;5(10):569-76.
Klein DA, Emerick JE, Sylvester JE, Vogt KS. Disorders of puberty: an approach to diagnosis and management. Am Family Phys. 2017;96(9):590-9.
Harrington J, Palmert MR. Distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of available diagnostic tests. J Clin Endocrinol Metab. 2012;97(9):3056-67.
Abreu AP, Kaiser UB. Pubertal development and regulation. Lancet Diabetes Endocrinol. 2016;4(3):254-64.
Dunkel L, Quinton R. Transition in endocrinology: induction of puberty. Eur J Endocrinol. 2014;170(6):R229-39.
Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177(3):G1-70.
Rohayem J, Nieschlag E, Kliesch S, Zitzmann M. Inhibin B, AMH, but not INSL3, IGF1 or DHEAS support differentiation between constitutional delay of growth and puberty and hypogonadotropic hypogonadism. Andrology. 2015;3(5):882-7.
Zeng Y, Zhao G, Zheng Y, Jiang X. From biological marker to clinical application: the role of anti-Müllerian hormone for delayed puberty and idiopathic non-obstructive azoospermia in males. Endocr Connect. 2025;14(3):e240630.
Şıklar Z, Kontbay T, Colclough K, Patel KA, Berberoğlu M. Expanding the Phenotype of TRMT10A Mutations: Case Report and a Review of the Existing Cases. J Clin Res Pediatr Endocrinol. 2023;15(1):90-6.
Tewari VV, Mehta R, Sreedhar CM, Tewari K, Mohammad A, Gupta N, et al. A novel homozygous mutation in POLR3A gene causing 4H syndrome: a case report. BMC Pediatr. 2018;18(1):126.
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