Congenital adrenal hyperplasia: an old concept with new perspective
Abstract
Congenital adrenal hyperplasia (CAH) incorporates a social occasion of autosomal uninvolved issues achieved by complete or partial distortions in one of a handful of the steroidogenic synthetic compounds related with the mix of cortisol from cholesterol in the adrenal organs. Around 1 in each 14,000 births and may cause questionable genitalia in female youngsters. By and by, CYP21A2 genotyping is seen as a significant enhancement to biochemical assessments in the finish of 21-hydroxylase need. In this study, we focus on sub-nuclear innate arrangements of 21-hydroxylase inadequacy, playing out a wide investigation of all clinical pathogenic varieties changing the whole progression of the CYP21A2 quality.
Keywords:
CYP21A2, 21 hydroxylase, genital abnormaity, Adrenal steroidogenesis, classical and Non-classical congenital adrenal hyperplasia
References
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23. Turcu AF, Auchus RJ. Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics., Vol. 44, no.2, (2015), pp. 275-96.
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25. New MI. Inborn errors of adrenal steroidogenesis. Molecular and cellular endocrinology Vol. 211, no.1-2, (2003), pp.75-84.
26. Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Abali ZY, Atapattu N, Bachega TA, Balsamo A, Birkebæk N. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry. European Journal of Endocrinology., Vol. 184, no.4, (2021), pp. 553-63.
27. Rivkees SA. Dexamethasone therapy of congenital adrenal hyperplasia and the myth of the" growth toxic" glucocorticoid. International journal of pediatric endocrinology., (2010):1-7.
2. Improda N, Barbieri F, Ciccarelli GP, Capalbo D, Salerno M. Cardiovascular health in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxilase deficiency. Frontiers in endocrinology., Vol. 11, no.10, (2019), pp. 212.
3. Claahsen-van der Grinten HL, Stikkelbroeck N, Falhammar H, Reisch N. MANAGEMENT OF ENDOCRINE DISEASE: Gonadal dysfunction in congenital adrenal hyperplasia. European Journal of Endocrinology., Vol. 1, no.184(3), (2021), pp. 85-97.
4. Concolino P, Costella A. Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency: a comprehensive focus on 233 pathogenic variants of CYP21A2 gene. Molecular diagnosis & therapy., Vol. 22, no.(3), (2018), pp. 261-80.
5. Monni AF, Sobhan R, Pathan MF, Afsana F, Amin F. An 11-year-old girl with genital ambiguity: a case of non-classical congenital adrenal hyperplasia. BIRDEM Medical Journal. 2020 Aug 23;10(3):204-6.
6. Kurtoğlu S, Hatipoğlu N. Non-classical congenital adrenal hyperplasia in childhood. Journal of clinical research in pediatric endocrinology., Vol. 9, no.1, (2017), pp.1.
7. El-Maouche D, Arlt W, Merke DP. Congenital adrenal hyperplasia. The Lancet., Vol. 11, no.390(10108), (2017), pp. 2194-210.
8. Hagenfeldt K, Janson PO, Holmdahl G, Falhammar H, Filipsson H, Frisén L, Thorén M, Nordenskjöld A. Fertility and pregnancy outcome in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human Reproduction., Vol. 23, no.7, (2008), pp. 1607-13.
9. Lee BR, Strobel KM, Chu A. The Neonate with Ambiguous Genitalia. NeoReviews., Vol. 22, no.4, (2021), pp.241-9.
10. Khanna K, Sharma S, Gupta DK. A clinical approach to diagnosis of ambiguous genitalia. Journal of Indian Association of Pediatric Surgeons., Vol. 24, no.3, (2019), pp. 162.
11. Vats P, Dabas A, Jain V, Seth A, Yadav S, Kabra M, Gupta N, Singh P, Sharma R, Kumar R, Polipalli SK. Newborn Screening and Diagnosis of Infants with Congenital Adrenal Hyperplasia. Indian pediatrics., Vol. 57, no.1, (2020), pp. 49-55.
12. Marino S, Perez Garrido N, Ramírez P, Pujana M, Dratler G, Belgorosky A, Marino R. Molecular analysis of the CYP21A2 gene in dried blood spot samples. MEDICINA (Buenos Aires). 2020 Jun 1;80(3):197-202.
13. Nageshwari R, Dhivakar M, Balakrishnan K, Selvan SA, Kumaravel V. Common CYP21A2 Gene Mutations in South Indian Congenital Adrenal Hyperplasia Patients. International Journal of Human Genetics., Vol. 17, no.3, (2017), pp. 103-8.
14. Dayal DE, Agarwal M. A novel CYP21A2 gene mutation in classic congenital adrenal hyperplasia. Indian Pediatr., Vol. 15, no.56, (2019), pp. 76.
15. White PC, New MI, Dupont BO. Structure of human steroid 21-hydroxylase genes. Proceedings of the National Academy of Sciences., Vol. 83, no.14, (1986), pp. 5111-5.
16. Seneviratne SN, Jayarajah U, Gunawardana S, Samarasinghe M, de Silva S. Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia. BMC pediatrics., Vol. 21, no.1, (2021), pp. 1-6.
17. Weber J, Tanawattanacharoen VK, Seagroves A, Liang MC, Koppin CM, Ross HM, Bachega TA, Geffner ME, Serrano-Gonzalez M, Bhullar G, Kim MS. Low Adrenomedullary Function Predicts Acute Illness in Infants with Classical Congenital Adrenal Hyperplasia. The Journal of Clinical Endocrinology & Metabolism., (2021).
18. Uppugalla S, Male U, Srinivasan P. Design and synthesis of heteroatoms doped carbon/polyaniline hybrid material for high performance electrode in supercapacitor application. Electrochimica Acta. 2014 Nov 10;146:242-8.
19. Male U, Uppugalla S, Srinivasan P. Effect of reduced graphene oxide–silica composite in polyaniline: electrode material for high-performance supercapacitor. Journal of Solid State Electrochemistry. 2015 Nov;19(11):3381-8.
20. Uppugalla S, Srinivasan P. High-performance supercapacitor coin cell: polyaniline and nitrogen, sulfur-doped activated carbon electrodes in aqueous electrolyte. Journal of Solid State Electrochemistry. 2019 Jan;23(1):295-306.
21. Uppugalla S, Srinivasan P. Polyaniline nanofibers and porous Ni [OH] 2 sheets coated carbon fabric for high performance super capacitor. Journal of Applied Polymer Science. 2019 Nov 5;136(41):48042.
22. Uppugalla S, Boddula R, Srinivasan P. Methyl triphenylphosphonium permanganate as a novel oxidant for aniline to polyaniline-manganese (II, IV) oxide: material for high performance pseudocapacitor. Journal of Solid State Electrochemistry. 2018 Feb;22(2):407-15.
23. Turcu AF, Auchus RJ. Adrenal steroidogenesis and congenital adrenal hyperplasia. Endocrinology and Metabolism Clinics., Vol. 44, no.2, (2015), pp. 275-96.
24. Miller WL. Mechanisms in endocrinology: rare defects in adrenal steroidogenesis. European journal of endocrinology., Vol. 179, no.3, (2018), pp. 125-41.
25. New MI. Inborn errors of adrenal steroidogenesis. Molecular and cellular endocrinology Vol. 211, no.1-2, (2003), pp.75-84.
26. Bacila I, Freeman N, Daniel E, Sandrk M, Bryce J, Ali SR, Abali ZY, Atapattu N, Bachega TA, Balsamo A, Birkebæk N. International practice of corticosteroid replacement therapy in congenital adrenal hyperplasia: data from the I-CAH registry. European Journal of Endocrinology., Vol. 184, no.4, (2021), pp. 553-63.
27. Rivkees SA. Dexamethasone therapy of congenital adrenal hyperplasia and the myth of the" growth toxic" glucocorticoid. International journal of pediatric endocrinology., (2010):1-7.
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V, S. G., & G, V. N. (2021). Congenital adrenal hyperplasia: an old concept with new perspective. Journal of Integral Sciences, 4(1), 1-12. Retrieved from https://jisciences.com/index.php/journal/article/view/35
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