Congenital Adrenal Hyperplasia in Alexandria, Egypt: A High Prevalence Justifying the Need for a Community-based Newborn Screening Program

Tayel, Shawky; Ismael, Hanaa; Kandil, Hesham H.; Rabuh, Abdel Rahman Abd; Sallam, Hassan

doi:10.1093/tropej/fmq064

Cited by 12 publications

(12 citation statements)

References 13 publications

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“…We used the Spearman rank correlation test to analyze the correlations between the PPV and gestational age and between the 17αhydroxyprogesterone level and CYP21A2 genotype. The Pearson product moment correlation test was used to correlate the reported sensitivity and years of follow-up in previous studies [11][12][13][14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29] (Table 1).…”

Section: Discussionmentioning

confidence: 99%

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden

et al. 2014

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Screening for CAH was highly effective in detecting the salt-wasting form and thereby reducing mortality. Additional late-onset cases of CAH were detected in childhood and adolescence, reducing the sensitivity for milder forms. The positive predictive value was high despite a low recall rate in full-term infants. Further improvements are necessary to increase the effectiveness of screening among preterm infants.

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Section: Discussionmentioning

confidence: 99%

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden

et al. 2014

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“…[4] In 2008, Osifo and Nwashilliv [5] retrospectively reported on 27 children with CAH in Nigeria, highlighting the challenges of managing these children in a developing country. Tayel et al [6] reported a high prevalence of CAH in Alexandria, Egypt, justifying the need for a newborn screening programme.…”

Section: Researchmentioning

confidence: 99%

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

et al. 2018

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“…( 11 ) The nationwide prevalence of CAH in the literature ranges between a high of 1:282 in Southwestern Alaska and a low of 1:23344 in New Zealand. ( 12 ) It is reported that 90–95 percent of cases result from 21-hydroxylase deficiency, ( 1 , 13 ) followed by 11-beta-hydroxylase deficiency which is responsible for 5–8 percent of cases. ( 14 ) The remainder of the enzymatic deficiencies account for less than 1 percent of reported cases.…”

Section: Introductionmentioning

confidence: 99%

“…( 14 ) The remainder of the enzymatic deficiencies account for less than 1 percent of reported cases. ( 7 ) The published data on the incidence of CAH in some Arab countries demonstrate relatively high rates such as 1:1209 in Alexandria, Egypt, ( 12 ) 1:5000 in Saudi Arabia ( 15 ) and 1:9030 in the United Arab Emirates. ( 16 ) The literature lacks epidemiologic reports regarding the prevalence, morbidity and mortality rates of CAH in Syria, with a population reaching 21.5 million in 2010 according to the United Nations Department of Economic and Social Affairs.…”

Section: Introductionmentioning

confidence: 99%

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

Alshabab

Alebrahem

Kaddoura

et al. 2015

Qatar Medical Journal

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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.

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Congenital Adrenal Hyperplasia in Alexandria, Egypt: A High Prevalence Justifying the Need for a Community-based Newborn Screening Program

Cited by 12 publications

References 13 publications

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden

Nationwide Neonatal Screening for Congenital Adrenal Hyperplasia in Sweden

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency in South Africa

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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