Abstract
Objectives
Delayed puberty is a common presentation to endocrine clinics, with adult height, sexual capability and fertility being the main concerns for the child and his/her family. Presentation is variable including short stature and/or absence of secondary sexual characteristics. The aetiology can either be constitutional, functional or permanent hypogonadotropic hypogonadism, permanent hypergonadotropic hypogonadism or unclassified. Despite the importance of this subject, there are no publications from Sudan.
Methods
A retrospective hospital-based study. Records of all patients who were seen in the endocrinology unit at Gaffar Ibn Auf Children’s Hospital and were diagnosed as having delayed puberty were reviewed and demographic, clinical, and investigations data were obtained.
Results
A total of 136 patients were included in this study. Presentation includes short stature in 52.2%, both short stature and delayed puberty in 27.2%, and delayed puberty in 20.6%. The most common aetiologies were permanent hypogonadotropic hypogonadism and functional hypogonadotropic hypogonadism presented in 37.5% and 36% respectively, while constitutional delay of growth and puberty was found in only 14.7%. Type 1 diabetes mellitus (T1DM) was the most frequent chronic illness followed by coeliac disease. Hypergonadotropic hypogonadism was diagnosed in 11.7%, the majority of which were females.
Conclusions
The aetiological pattern reported in this series highlights the role of nutrition and general well-being in pubertal development, as well as the major impact of genetics and consanguinity on disease patterns. Data from African countries are limited and this is the first reported cohort on delayed puberty from Sudan.
Acknowledgments
The authors thank Dr. Samar S. Hassan, the head of endocrinology department in Gaafar Ibn Auf hospital for her kind advice and support.
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Research funding: None declared.
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Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: The study was approved by the Ethical Board of the hospital and verbal consent was obtained from the families.
References
1. Day, FR, Helgason, H, Chasman, DI, Rose, LM, Loh, PR, Scott, RA, et al.. Physical and neurobehavioral determinants of reproductive onset and success. Nat Genet 2016;48:617–23. https://doi.org/10.1038/ng.3551.Search in Google Scholar PubMed PubMed Central
2. Kelly, Y, Zilanawala, A, Sacker, A, Hiatt, R, Viner, R. Early puberty in 11-year-old girls: millennium cohort study findings. Arch Dis Child 2017;102:232–7. https://doi.org/10.1136/archdischild-2016-310475.Search in Google Scholar PubMed PubMed Central
3. Li, HJ, Ji, CY, Wang, W, Hu, YH. A twin study for serum leptin, soluble leptin receptor, and free insulin-like growth factor-I in pubertal females. J Clin Endocrinol Metab 2005;90:3659–64. https://doi.org/10.1210/jc.2004-2079.Search in Google Scholar PubMed
4. Karlberg, J. Secular trends in pubertal development. Horm Res Paediatr 2002;57:19–30. https://doi.org/10.1159/000058096.Search in Google Scholar PubMed
5. Parent, AS, Teilmann, G, Juul, A, Skakkebaek, NE, Toppari, J, Bourguignon, JP. The timing of normal puberty and the age limits of sexual precocity: variations around the world, secular trends, and changes after migration. Endocr Rev 2003;24:668–93. https://doi.org/10.1210/er.2002-0019.Search in Google Scholar PubMed
6. Goddings, AL, Mills, KL, Clasen, LS, Giedd, JN, Viner, RM, Blakemore, SJ. The influence of puberty on subcortical brain development. Neuroimage 2014;88:242–51.10.1016/j.neuroimage.2013.09.073Search in Google Scholar PubMed PubMed Central
7. Blakemore, SJ, Burnett, S, Dahl, RE. The role of puberty in the developing adolescent brain. Hum Brain Mapp 2010;31:926–33. https://doi.org/10.1002/hbm.21052.Search in Google Scholar PubMed PubMed Central
8. Lee, Y, Styne, D. Influences on the onset and tempo of puberty in human beings and implications for adolescent psychological development. Horm Behav 2013;64:250–61. https://doi.org/10.1016/j.yhbeh.2013.03.014.Search in Google Scholar PubMed
9. Susman, EJ, Rogol, A. Puberty and psychological development. In: Lerner, RM, Steinberg, L, editors. Handbook of adolescent psychology. Washington, DC: John Wiley & Sons Inc.; 2004:15–44 pp.10.1002/9780471726746.ch2Search in Google Scholar
10. Romeo, RD. Puberty: a period of both organizational and activational effects of steroid hormones on neurobehavioural development. J Neuroendocrinol 2003;15:1185–92. https://doi.org/10.1111/j.1365-2826.2003.01106.x.Search in Google Scholar PubMed
11. Dwyer, AA. Psychosexual effects resulting from delayed, incomplete, or absent puberty. Curr Opin Endoc Metab Res 2020;14:15–21. https://doi.org/10.1016/j.coemr.2020.04.003.Search in Google Scholar PubMed PubMed Central
12. Marshall, WA, Tanner, JM. Variations in pattern of pubertal changes in girls. Arch Dis Child 1969;44:291. https://doi.org/10.1136/adc.44.235.291.Search in Google Scholar PubMed PubMed Central
13. Marshall, WA, Tanner, JM. Variations in the pattern of pubertal changes in boys. Arch Dis Child 1970;45:13–23. https://doi.org/10.1136/adc.45.239.13.Search in Google Scholar PubMed PubMed Central
14. Roche, AF, Wellens, R, Attie, KM, Siervogel, RM. The timing of sexual maturation in a group of US white youths. J Pediatr Endocrinol Metab 1995;8:11–8. https://doi.org/10.1515/jpem.1995.8.1.11.Search in Google Scholar PubMed
15. Krupa, B, Miazgowski, T. Bone mineral density and markers of bone turnover in boys with constitutional delay of growth and puberty. J Clin Endocrinol Metab 2005;90:2828–30. https://doi.org/10.1210/jc.2005-0086.Search in Google Scholar PubMed
16. Ho, AY, Kung, AW. Determinants of peak bone mineral density and bone area in young women. J Bone Miner Metab 2005;23:470–5. https://doi.org/10.1007/s00774-005-0630-7.Search in Google Scholar PubMed
17. Butler, TA, Yingling, VR. The effects of delayed puberty on the growth plate. J Pediatr Orthop 2013;33:99. https://doi.org/10.1097/bpo.0b013e31826a53f2.Search in Google Scholar
18. Zhu, J, Chan, YM. Adult consequences of self-limited delayed puberty. Pediatrics 2017;139:e20163177. https://doi.org/10.1542/peds.2016-3177.Search in Google Scholar PubMed PubMed Central
19. Sedlmeyer, IL, Palmert, MR. Delayed puberty: analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002;87:1613–20. https://doi.org/10.1210/jcem.87.4.8395.Search in Google Scholar PubMed
20. Palmert, MR, Dunkel, L. Delayed puberty. N Engl J Med 2012;366:443–53. https://doi.org/10.1056/nejmcp1109290.Search in Google Scholar PubMed
21. 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. Hum Reprod 2017;32:147–53.10.1093/humrep/dew294Search in Google Scholar PubMed
22. Gundgurthi, A, Garg, MK, Bhardwaj, R, Brar, KS, Kharb, S, Pandit, A. Clinical spectrum of hypopituitarism in India: a single center experience. Indian J Endocrinology Metab 2012;16:803. https://doi.org/10.4103/2230-8210.100681.Search in Google Scholar PubMed PubMed Central
23. Uday, S, Alvi, S. Diagnostic spectrum of female pubertal delay. ESPE Abstracts 2014;82.Search in Google Scholar
24. Bhakhri, BK, Prasad, MS, Choudhary, IP, Biswas, K. Delayed puberty: experience of a tertiary care centre in India. Ann Trop Paediatr 2010;30:205–12. https://doi.org/10.1179/146532810x12786388978562.Search in Google Scholar
25. Rohani, F, Rashad, A. Etiology of delayed puberty in the institute for endocrinology and metabolism. Iran J Pediatr 2007;17:255–60.Search in Google Scholar
26. Pivonello, R, Menafra, D, Riccio, E, Garifalos, F, Mazzella, M, De Angelis, C, et al.. Metabolic disorders and male hypogonadotropic hypogonadism. Front Endocrinol 2019;10:345. https://doi.org/10.3389/fendo.2019.00345.Search in Google Scholar PubMed PubMed Central
27. Talpade, M, Talpade, S. Early puberty in African-American girls: nutrition past and present. Adolescence 2001;36:789.Search in Google Scholar
28. Herman, ME, Giddens, PA, Bourdony, C, Slora, E, Wasserman, R. Early puberty: a cautionary tale. Pediatrics 2001;107:609–10. https://doi.org/10.1542/peds.107.3.609.Search in Google Scholar PubMed
29. Styne, DM. Puberty, obesity and ethnicity. Trends Endocrinol Metabol 2004;15:472–8. https://doi.org/10.1016/j.tem.2004.10.008.Search in Google Scholar PubMed
30. Ali, A, Ibrahim, I, Abdelgbar, S, Elgessim, M. Socio-demographic factors affecting child marriage in Sudan. J Women’s Health Care 2014;3:2167–9. https://doi.org/10.4172/2167-0420.1000163.Search in Google Scholar
31. Krainz, PL, Hanna, CE, LaFranchi, SH. Etiology of delayed puberty in 146 children evaluated over a 10 Year period. J Pediatr Endocrinol Metab 1987;2:165–72. https://doi.org/10.1515/jpem.1987.2.4.165.Search in Google Scholar
32. Toublanc, JE, Roger, M, Chaussain, JL. Etiologies of late puberty. Horm Res Paediatr 1991;36:136–40. https://doi.org/10.1159/000182147.Search in Google Scholar PubMed
33. Hassan, SS, Renson Mukhwana, SM, Musa, S, Ibrahim, AA, Babiker, O, Abdullah, MA. Aetiologies and clinical patterns of hypopituitarism in Sudanese children. Sudan J Paediatr 2021;21:53. https://doi.org/10.24911/sjp.106-1588448825.Search in Google Scholar PubMed PubMed Central
34. Saha, N, Sheikh, FS. Inbreeding levels in Khartoum. J Biosoc Sci 1988;20:333–6. https://doi.org/10.1017/s0021932000006660.Search in Google Scholar PubMed
35. Saha, N, Hamad, RE, Mohamed, S. Inbreeding effects on reproductive outcome in a Sudanese population. Hum Hered 1990;40:208–12. https://doi.org/10.1159/000153932.Search in Google Scholar PubMed
36. 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. Nat Rev Endocrinol 2015;11:547–64. https://doi.org/10.1038/nrendo.2015.112.Search in Google Scholar PubMed
37. Alshafie, H, Ibraheem, A, Musa, SA, Hassan, SS, Babkir, O, Abdullah, MA. Paediatric craniopharyngioma in Sudan: an overview of clinical presentation, related endocrinopathies and outcomes. Khartoum Med J 2021;14:1924–30.Search in Google Scholar
38. Arabi, A, Karrar, ZA, Mubarak, FH, Bilal, JA. Clinical presentation of coeliac disease and the effect of sorghum-based diet on anthropometric measurements among Sudanese children. Sudan J Paediatr 2020;20:144. https://doi.org/10.24911/sjp.106-1586348889.Search in Google Scholar PubMed PubMed Central
39. Barden, EM, Kawchak, DA, Ohene-Frempong, K, Stallings, VA, Zemel, BS. Body composition in children with sickle cell disease. Am J Clin Nutr 2002;76:218–25. https://doi.org/10.1093/ajcn/76.1.218.Search in Google Scholar PubMed
40. Zemel, BS, Kawchak, DA, Ohene-Frempong, K, Schall, JI, Stallings, VA. Effects of delayed pubertal development, nutritional status, and disease severity on longitudinal patterns of growth failure in children with sickle cell disease. Pediatr Res 2007;61:607–13. https://doi.org/10.1203/pdr.0b013e318045bdca.Search in Google Scholar PubMed
41. Zemel, BS, Kawchak, DA, Fung, EB, Ohene-Frempong, K, Stallings, VA. Effect of zinc supplementation on growth and body composition in children with sickle cell disease. Am J Clin Nutr 2002;75:300–7. https://doi.org/10.1093/ajcn/75.2.300.Search in Google Scholar PubMed
42. Binder, G, Schweizer, R, Blumenstock, G, Braun, R. Inhibin B plus LH vs. Gn RH agonist test for distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism in boys. Clin Endocrinol 2015;82:100–5. https://doi.org/10.1111/cen.12613.Search in Google Scholar PubMed
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