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Journal of Medical Case Reports

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Open Access 01-12-2022 | Congenital Adrenal Hyperplasia | Case report

Syrian females with congenital adrenal hyperplasia: a case series

Authors: Nada Dehneh, Rami Jarjour, Sahar Idelbi, Assad Alibrahem, Sahar Al Fahoum

Published in: Journal of Medical Case Reports | Issue 1/2022

Abstract

Background

One of the most common types of congenital adrenal hyperplasia is an autosomal recessive disorder with 21-hydroxylase deficiency. The classical form, defined by cortisol insufficiency, is accompanied by prenatal androgen excess causing variable masculinization degrees of external genitalia in babies with a 46, XX karyotype.

Cases presentation

These five case reports highlight the management of Syrian females aged between 0 and 32 years with congenital adrenal hyperplasia. Two of the patients have been raised as males, while two had reconstructive surgery and one had hormonal therapy. Becoming mother was achieved by two patients

Conclusion

The integrated treatment of females with classical congenital adrenal hyperplasia CAH, which includes appropriate surgical procedures and controlled hormonal therapy, gives these females the opportunity to live as they are, and perhaps as mothers in the future.

Al-Jurayyan NA. Ambiguous genitalia: two decades of experience. Ann Saudi Med. 2011;31(3):284–8. https://doi.org/10.4103/0256-4947.81544.CrossRefPubMedPubMedCentral

Al-Obaidi RG, Al-Musawi BM, Al-Zubaidi MA, Oberkanins C, Németh S, Al-Obaidi YG. Molecular analysis of CYP21A2 gene mutations among Iraqi patients with congenital adrenal hyperplasia. Enzyme Res. 2016;2016:9040616. https://doi.org/10.1155/2016/9040616.CrossRefPubMedPubMedCentral

Almasri J, Zaiem F, Rodriguez-Gutierrez R, Tamhane SU, Iqbal AM, Prokop LJ, Speiser PW, Baskin LS, Bancos I, Murad MH. Genital reconstructive surgery in females with congenital adrenal hyperplasia: a systematic review and meta-analysis. J Clin Endocrinol Metab. 2018;103(11):4089–96. https://doi.org/10.1210/jc.2018-01863.CrossRefPubMed

Auchus RJ, Witchel SF, Leight KR, Aisenberg J, Azziz R, Bachega TA, Baker LA, Baratz AB, Baskin LS, Berenbaum SA, Breault DT, Cerame BI, Conway GS, Eugster EA, Fracassa S, Gearhart JP, Geffner ME, Harris KB, Hurwitz RS, Katz AL, et al. Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: guidance from the CARES foundation initiative. Int J Pediatr Endocrinol. 2010;2010: 275213. https://doi.org/10.1155/2010/275213.CrossRefPubMed

Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, YükselApak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children. J Clin Res Pediatr Endocrinol. 2009;1(3):116–28. https://doi.org/10.4008/jcrpe.v1i3.49.CrossRefPubMedPubMedCentral

Chatziaggelou A, Sakkas EG, Votino R, Papagianni M, Mastorakos G. Assisted reproduction in congenital adrenal hyperplasia. Front Endocrinol. 2019;10:723. https://doi.org/10.3389/fendo.2019.00723.CrossRef

Daggag H, Batayneh A, Al-Khawaja N, Fathallah R, Al-Masri M, Abu-Khashabeh R, El-Khateeb M, Ajlouni K. Prevalence of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, in a Jordanian sample pool. Amman: National Center for Diabetes, Endocrinology and Genetics; 2011. p. 2–739. https://doi.org/10.1210/endo-meetings.2011.PART3.P14.CrossRef

de Jesus LE, Costa EC, Dekermacher S. Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? J Pediatr Surg. 2019;54(11):2421–7. https://doi.org/10.1016/j.jpedsurg.2019.01.062.CrossRefPubMed

Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase. Horm Res. 2000;53(2):77–82. https://doi.org/10.1159/000023518.CrossRefPubMed

10.

Dehneh N, Jarjour R, Al Fahoum S. Frequency of the point mutation R356W in a group of Syrian patients with congenital adrenocortical hyperplasia due to 21-hydroxylase deficiency. J Med Sci Damascus Univ. 2021. http://journal.damascusuniversity.edu.sy/index.php/heaj/article/view/1392.

11.

Dehneh N. Phenotype and genotype of 21-hydroxylase deficiency in patients with congenital adrenal hyperplasia in Syria. Doctorate thesis. Department of Biochemistry and Microbiology, Faculty of pharmacy, Damascus University, Damascus; 2022. p. 150.

12.

Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia. J Steroid Biochem Mol Biol. 2017;165(Pt A):51–6. https://doi.org/10.1016/j.jsbmb.2016.03.035.CrossRefPubMed

13.

Elmougy F, Elsharkawy M, Hafez M, Atty SA, Baz H, Ibrahim A, Soliman H, Ekladious S, Abdullatif M, Thabet G, Rady N, Afif A, Tolba A, Zaki Z, Musa N. Genetic profiling of CAH Egyptian children: rapid guide to clinical interpretation of common mutations. J Endocrinol Invest. 2021;44(1):83–93. https://doi.org/10.1007/s40618-020-01271-z.CrossRefPubMed

14.

Forouzanfar K, Seifi M, Hashemi-Gorji F, Karimi N, Estiar MA, Karimoei M, Sakhinia E, Karimipour M, Ghergherehchi R. Mutation analysis of the CYP21A2 gene in congenital adrenal hyperplasia. Cell Mol Biol. 2015;61(4):51–5.PubMed

15.

Gustashaw KM. Chromosome stains. In: Barch MJ, editor. The ACT cytogenetics laboratory manual. 2nd ed. New York: The Association of Cytogenetic Technologists, Raven Press; 1991.

16.

Khan AH, Nasir MI, Moatter T. Characterization of pathogenic mutations in 21-hydroxylase gene of Pakistani patients with congenital adrenal hyperplasia and their family members—a preliminary report. J Pak Med Assoc. 2002;52(7):287–91.PubMed

17.

Kocova M, Anastasovska V, Bitovska I. The impact of CYP21A2 (P30L/I172N) genotype on female fertility in one family. Eur J Med Res. 2019;24(1):21. https://doi.org/10.1186/s40001-019-0379-4.CrossRefPubMedPubMedCentral

18.

Krishnan GD, Yahaya N. Case report of an adult female with neglected congenital adrenal hyperplasia (CAH). J ASEAN Fed Endocr Soc. 2018;33(2):199–201. https://doi.org/10.15605/jafes.033.02.14.CrossRefPubMedPubMedCentral

19.

Krone N, Dhir V, Ivison HE, Arlt W. Congenital adrenal hyperplasia and P450 oxidoreductase deficiency. Clin Endocrinol. 2007;66(2):162–72. https://doi.org/10.1111/j.1365-2265.2006.02740.x.

20.

Ladjouze A, Yala I, Yahiaoui M, Zerguini D, Tardy V, Mohammedi K, et al. Age at diagnosis and outcome in Maghreb patients with 21-hydroxylase deficient congenital adrenal hyperplasia. ESPE Abstracts. 89:P-P3-005. Horm Res Paediatr. 2018;82(Suppl 1).

21.

Marumudi E, Sharma A, Kulshreshtha B, Khadgawat R, Khurana ML, Ammini AC. Molecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia. Indian J Endocrinol Metab. 2012;16(3):384–8. https://doi.org/10.4103/2230-8210.95679.CrossRefPubMedPubMedCentral

22.

Merke DP, Auchus RJ. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med. 2020;383(13):1248–61. https://doi.org/10.1056/NEJMra1909786.CrossRefPubMed

23.

Meyer-Bahlburg H, Khuri J, Reyes-Portillo J, Ehrhardt AA, New MI. Stigma associated with classical congenital adrenal hyperplasia in women’s sexual lives. Arch Sex Behav. 2018;47(4):943–51. https://doi.org/10.1007/s10508-017-1003-8.CrossRefPubMed

24.

Othman H, Saadat M. Prevalence of consanguineous marriages in Syria. J Biosoc Sci. 2009;41(5):685–92. https://doi.org/10.1017/S0021932009003411.CrossRefPubMed

25.

Prasad R, Khajuria R, Bhansali A. Biochemistry, molecular biology and molecular genetics of congenital adrenal hyperplasia. In: Prasad R, editor. Biochemistry, molecular biology and molecular genetics of genetic disorders. Trivandrum: Transworld Research Network; 2013. p. 83–105. ISBN: 978-81-7895-609-1.

26.

Ramazani A, Kahrizi K, Razaghiazar M, Mahdieh N, Koppens P. The frequency of eight common point mutations in CYP21 gene in Iranian patients with congenital adrenal hyperplasia. Iran Biomed J. 2008;12(1):49–53.PubMed

27.

Reisch N. Review of health problems in adult patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Exp Clin Endocrinol Diabetes. 2019;127(2–03):171–7. https://doi.org/10.1055/a-0820-2085.CrossRefPubMed

28.

Sheikh Alshabab LI, AlebrahIm A, Kaddoura A, Al-Fahoum S. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a five-year retrospective study in the children’s hospital of Damascus, Syria. Qatar Med J. 2015;2015(1):11. https://doi.org/10.5339/qmj.2015.11.CrossRefPubMedPubMedCentral

Title: Syrian females with congenital adrenal hyperplasia: a case series
Authors: Nada Dehneh
Rami Jarjour
Sahar Idelbi
Assad Alibrahem
Sahar Al Fahoum
Publication date: 01-12-2022
Publisher: BioMed Central
Keywords: Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia
Published in: Journal of Medical Case Reports / Issue 1/2022
Electronic ISSN: 1752-1947
DOI: https://doi.org/10.1186/s13256-022-03609-y

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Syrian females with congenital adrenal hyperplasia: a case series

Abstract

Background

Cases presentation

Conclusion

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Background

Cases presentation

Conclusion

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