Central Precocious Puberty as a Sign of Congenital Adrenal Hyperplasia: Case Presentations
DOI:
https://doi.org/10.6000/1929-4247.2020.09.04.5Keywords:
Precocious puberty, congenital adrenal hyperplasia.Abstract
Central precocious puberty results from the premature activation of the hypothalamic-pituitary-gonadal axis. Rarely congenital adrenal hyperplasia and/or its inappropriate treatment can be a peripheral cause of CPP. There are very few case reports of this etiology. Chronic mildly to moderately elevated adrenal androgens or intermittent hyperandrogenemia in congenital adrenal hyperplasia may trigger the precocious activation of the hypothalamic-pituitary axis, leading to CPP. In the current work, we describe 6 cases of late diagnosis of congenital adrenal hyperplasia associated with central precocious puberty. Central precocious puberty seems to be a complication of congenital adrenal hyperplasia, particularly in countries where a routine neonatal screening program for this condition is lacking. It is unclear whether these patients could avoid central precocious puberty development if the congenital adrenal hyperplasia was diagnosed in the neonatal period and appropriately treated. The current work underlines the need for congenital adrenal hyperplasia neonatal screening implementation and further investigation of the association of these two endocrine disorders
References
Anik A. Letter to the Editor: Central Precocious Puberty as a Presenting Sign of Nonclassical Congenital Adrenal Hyperplasia: Clinical Characteristics. J Clin Endocrinol Metab 2019; 104(12): 5807. https://doi.org/10.1210/jc.2019-01352 DOI: https://doi.org/10.1210/jc.2019-01352
Haddad NG, Eugster EA. Peripheral precocious puberty, including congenital adrenal hyperplasia: causes, consequences, management, and outcomes. Best Pract Res Clin Endocrinol Metab 2019; 33(3): 101273. https://doi.org/10.1016/j.beem.2019.04.007 DOI: https://doi.org/10.1016/j.beem.2019.04.007
Milunsky A, Milunsky J. Genetic disorders and the fetus: Diagnosis, prevention, and treatment. John Wiley Son 2010; 600. https://doi.org/10.1002/9781444314342 DOI: https://doi.org/10.1002/9781444314342
Merke D, Kabbani M. Congenital adrenal hyperplasia: epidemiology, management, and practical drug treatment. Paediatr Drugs 2001; 3(8): 599-611. https://doi.org/10.2165/00128072-200103080-00005 DOI: https://doi.org/10.2165/00128072-200103080-00005
Khalid JM, Oerton JM, Dezateux C, et al. Incidence and clinical features of congenital adrenal hyperplasia in Great Britain. Arch Dis Child 2012; 97(2): 101-6. https://doi.org/10.1136/archdischild-2011-300234 DOI: https://doi.org/10.1136/archdischild-2011-300234
Merke DP, Bornstein SR. Congenital Adrenal Hyperplasia. Lancet, 2005; 365: 2125-2136. https://doi.org/10.1016/S0140-6736(05)66736-0 DOI: https://doi.org/10.1016/S0140-6736(05)66736-0
Balsamo A, Cicognani A, Baldazzi L, et al. CYP21 Genotype, Adult Height, and Pubertal Development in 55 Patients Treated for 21-Hydroxylase Deficiency. J Clin Endocrinol Metabol 2003; 88(12) 5680-5688. https://doi.org/10.1210/jc.2003-030123 DOI: https://doi.org/10.1210/jc.2003-030123
Concolino P, Costella A. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene. Mol Diag Ther 2018; 1-20. https://doi.org/10.1007/s40291-018-0319-y DOI: https://doi.org/10.1007/s40291-018-0319-y
Nermoen I, Husebye ES, Myhre AG, et al. Classic Congenital Adrenal Hyperplasia. Tidsskr Nor Laegeforen 2017; 137(7): 540-543. https://doi.org/10.4045/tidsskr.16.0376 DOI: https://doi.org/10.4045/tidsskr.16.0376
Speiser PW, Azziz R, Baskin LS, et al. White Congenital Adrenal Hyperplasia Due to Steroid21-Hydroxylase Deficiency: An Endocrine SocietyClinical Practice Guideline J Clin Endocrinol Metab 2010; 95(9): 4133-4160. https://doi.org/10.1210/jc.2009-2631 DOI: https://doi.org/10.1210/jc.2009-2631
Markosyan RL, Aghajanova EM, Zaqaryan HE. Familial case of congenital adrenal hyperplasia complicated with central precocious puberty. New Armenia Med J 2020; In press.
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