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Case Reports
. 2022 Oct 15;16(1):371.
doi: 10.1186/s13256-022-03609-y.

Syrian females with congenital adrenal hyperplasia: a case series

Affiliations
Case Reports

Syrian females with congenital adrenal hyperplasia: a case series

Nada Dehneh et al. J Med Case Rep. .

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.

Keywords: Case report; Congenital adrenal hyperplasia; Syria.

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Conflict of interest statement

There is no conflict of interest.

Figures

Fig. 1
Fig. 1
Karyotype results in case 1
Fig. 2
Fig. 2
Karyotype results in case 2
Fig. 3
Fig. 3
Ambiguous genitalia in case 3
Fig. 4
Fig. 4
Karyotype results in case 3
Fig. 5
Fig. 5
Karyotype results in case 4

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References

    1. Al-Jurayyan NA. Ambiguous genitalia: two decades of experience. Ann Saudi Med. 2011;31(3):284–288. doi: 10.4103/0256-4947.81544. - DOI - PMC - PubMed
    1. 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. doi: 10.1155/2016/9040616. - DOI - PMC - PubMed
    1. 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):4089–4096. doi: 10.1210/jc.2018-01863. - DOI - PubMed
    1. 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. doi: 10.1155/2010/275213. - DOI - PMC - PubMed
    1. 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):116–128. doi: 10.4008/jcrpe.v1i3.49. - DOI - PMC - PubMed

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