CENTRAL PRECOCIOUS PUBERTY COMPLICATING CONGENITAL ADRENAL HYPERPLASIA: A CASE REPORT
Keywords:
Ambiguous genitalia, Congenital adrenal hyperplasia, Central precocious puberty, GnRH, 21-hydroxylase enzymeAbstract
Congenital adrenal hyperplasia (CAH) is classically known to be responsible for peripheral precocity. It is caused by genetic defects that result in a deficiency of enzymes vital for adrenal steroidogenesis. However, in rare cases, central precocious puberty (CPP) can develop because of chronic hyperandrogenaemia, particularly in late-diagnosed CAH. This condition may develop following prolonged exposure to inadequately suppressed adrenal androgens, particularly in poorly controlled disease. Tanner staging monitoring, bone age determination, and confirmatory GnRH stimulation tests are essential in diagnosing CPP in CAH patients. We describe a case of a girl with simple virilising CAH, initially diagnosed at 3 years old, who subsequently developed CPP at 6 years old due to delayed presentation and poor treatment adherence. This case underscores the critical importance of enhanced patient education on early diagnosis, treatment adherence, and close monitoring of CAH in preventing and allowing the early detection of CPP.
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[1] Auer, M. K., Nordenström, A., Lajic, S., & Reisch, N. (2023). Congenital adrenal hyperplasia. The Lancet, 401(10372), 227-244.
[2] Brito, V. N., Canton, A. P., Seraphim, C. E., Abreu, A. P., Macedo, D. B., Mendonca, B. B., ... & Latronico, A. C. (2023). The congenital and acquired mechanisms implicated in the etiology of central precocious puberty. Endocrine reviews, 44(2), 193-221.
[3] Dayal, D., Aggarwal, A., Seetharaman, K., & Muthuvel, B. (2018). Central precocious puberty complicating congenital adrenal hyperplasia: North Indian experience. Indian Journal of Endocrinology and Metabolism, 22(6), 858-859.
[4] Neeman, B., Bello, R., Lazar, L., Phillip, M., & de Vries, L. (2019). Central precocious puberty as a presenting sign of nonclassical congenital adrenal hyperplasia: clinical characteristics. The Journal of Clinical Endocrinology & Metabolism, 104(7), 2695-2700.
[5] Joo, E. Y., Yoo, M. J., Kim, S. J., Jang, W., & Lee, J. E. (2024). Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome. Frontiers in Endocrinology, 15, 1352552.
[6] Ab Rahim, S. N., Omar, J., & Ismail, T. S. T. (2020). Gonadotropin-releasing hormone stimulation test and diagnostic cutoff in precocious puberty: a mini review. Annals of Pediatric Endocrinology & Metabolism, 25(3), 152-155.
[7] Pofi, R., Ji, X., Krone, N. P., & Tomlinson, J. W. (2024). Long‐term health consequences of congenital adrenal hyperplasia. Clinical Endocrinology, 101(4), 318-331.
[8] Tsai, M. J. M., Tsai, W. Y., Lee, C. T., Liu, S. Y., Chien, Y. H., & Tung, Y. C. (2023). Adult height of children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Journal of the Formosan Medical Association, 122(2), 106-112.
[9] Szczepaniak, Z., Konopka, A., Wdowiak, N., Lissak, K., Komarów, M., Choinka, M. & Kalisiak, J. (2024). Congenital Adrenal Hyperplasia: A Review of Current Knowledge and Future Directions. Quality in Sport, 22, 54274-54274.
[10] Gunawardana, S., Jayarajah, U., Ahmed, S. F., & Seneviratne, S. N. (2024). Health-related quality of life in children and adolescents with congenital adrenal hyperplasia: a systematic review and meta-analysis. The Journal of Clinical Endocrinology & Metabolism, 109(6), 1618-1629.
[11] Banerjee, S., & Bajpai, A. (2023). Precocious puberty. Indian Journal of Pediatrics, 90(6), 582-589.
[12] Wei, C., Davis, N., Honour, J., & Crowne, E. (2017). The investigation of children and adolescents with abnormalities of pubertal timing. Annals of Clinical Biochemistry, 54(1), 20-32.
[13] Uslar, T., Olmos, R., Martínez-Aguayo, A., & Baudrand, R. (2023). Clinical update on congenital adrenal hyperplasia: recommendations from a multidisciplinary adrenal program. Journal of Clinical Medicine, 12(9), 3128.
[14] Malineni, V., Raghu, M. S., Sarathi, V., & Kumar, D. (2019). SAT-296 Congenital Adrenal Hyperplasia Presenting as Central Precocious Puberty. Journal of the Endocrine Society, 3(Supplement_1), SAT-296.
[15] Güven, A., Cebeci, A. N., & Hancili, S. (2015). Gonadotropin releasing hormone analog treatment in children with congenital adrenal hyperplasia complicated by central precocious puberty. Hormones, 14, 265-271.
[16] Soliman, A., Alaaraj, N., De Sanctis, V., Alyafei, F., Ahmed, S., & Hamed, N. (2023). Long-term health consequences of central precocious/early puberty (CPP) and treatment with Gn-RH analogue: a short update. Acta Bio Medica: Atenei Parmensis, 94(6), e2023222.
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