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

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

Alshabab, Lina Ibrahem Sheikh
Alebrahim, Assad
Kkaddoura, Ahmad
Al-Fahoum, Sahar

7/31/15

English

20150731

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

15.3

15.3;15.1;15.11

genetic disorders--[pri];genetic testing--[pri];intersexuality--[pri];mandatory testing--[pri]

consanguinity;diagnosis;genetic carriers;morbidity;mortality;newborns;prevalence

Syria--[pri]

congenital adrenal hyperplasia--[pri]

salt-wasting

Qatar Medical Journal2015 July 31;2015(1):11: 6 p.

Creative Commons Attribution license CC BY 4.0

citation

25 ref

02538253 (print);22270426 (online)