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.
Highlights
Congenital adrenal hyperplasia (CAH) is a group of disorders caused by a lack in one of the enzymes that mediate the adrenal corticoid hormone synthesis pathway which produces cortisol from cholesterol
Further efforts are needed to confirm the effectiveness of such a program in the Syrian society
It is inherited in an autosomal recessive pattern,(1,2) and known to be the most common cause of disorders of sexual differentiation,(3) especially in females.[4]. This inherited disorder leads to a reduced production of glucocorticoids, over or under production of mineralocorticoids and androgens leading to a variety of clinical manifestations depending on the type of the defective enzyme and the severity of its deficiency
Summary
Congenital adrenal hyperplasia (CAH) is a group of disorders caused by a lack in one of the enzymes that mediate the adrenal corticoid hormone synthesis pathway which produces cortisol from cholesterol It is inherited in an autosomal recessive pattern,(1,2) and known to be the most common cause of disorders of sexual differentiation,(3) especially in females.[4] This inherited disorder leads to a reduced production of glucocorticoids, over or under production of mineralocorticoids and androgens leading to a variety of clinical manifestations depending on the type of the defective enzyme and the severity of its deficiency. 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 admitted at the hospital for the first time within the same period, were retrospectively reviewed and divided into two groups: confirmed and suspected cases. Confirmatory tests had not been performed because of death in 7 patients (28%) and early discharge upon parental request in another 7 patients (28%)
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