NDLI: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A five-year retrospective study in the Children's Hospital of Damascus, Syria

Content Provider	PubMed Central
Author	Sheikh, Alshabab Lina Ibrahem Assad, Alebrahim Ahmad, Kaddoura Sahar, Al-fahoum
Copyright Year	2015
Abstract	Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited metabolic disorders. 21-hydroxylase deficiency is responsible for the majority of cases (90-95%) and considered the most common cause of genital ambiguity. There are no statistics concerning the prevalence of this disorder in Syria, although the high rate of consanguineous marriages indicates a possible high prevalence. Objectives: This study aims to collect baseline information about CAH in Syria to evaluate the potential need of a screening program. Subjects and Methods: All medical records of inpatients who had CAH as a final or presumptive diagnosis at the Children's Hospital of Damascus between 2008–2012, or were diagnosed elsewhere and then admitted at the hospital for the first time within the same period, were retrospectively reviewed and divided into two groups: confirmed and suspected cases. Results: Eighty-nine cases were confirmed, 25 were still suspected. Of the 89 confirmed cases: 20 (22.5%) were males, 66 (74.1%) were females, and 3 were ambiguous. Sixty-one patients (68.5%) were of the salt wasting type and 28 (31.5%) were of the simple virilizing type. The mortality rate was 6.7%. Thirty-two females were assigned as males at birth. Seventeen cases (19.1%) underwent previous hospitalization. 69.7% of patients were not diagnosed during the first month of life. Of the 25 suspected cases: 12 were males, 8 were females and 5 were ambiguous. Confirmatory tests had not been performed because of death in 7 patients (28%) and early discharge upon parental request in another 7 patients (28%). Conclusion: A mandatory screening program for CAH in Syria seems necessary due to the obvious lack of awareness, delayed diagnosis and high expected prevalence. However, further efforts are needed to confirm the effectiveness of such a program in the Syrian society.
Related Links	http://dx.doi.org/10.5339/qmj.2015.11
Starting Page	11
File Format	PDF
ISSN	22270426
e-ISSN	22270426
Journal	Qatar Medical Journal
Issue Number	1
Volume Number	2015
Language	English
Publisher	Bloomsbury Qatar Foundation Journals
Publisher Date	2015-04-01
Access Restriction	Open
Rights Holder	Bloomsbury Qatar Foundation Journals
Subject Keyword	Medicine Healthcare Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Medicine

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