Access to fludrocortisone and to hydrocortisone in children with congenital adrenal hyperplasia in the WHO Eastern Mediterranean Region: it takes a village…

Abstract

Congenital adrenal hyperplasia (CAH), if untreated, carries high morbidity and mortality. A higher incidence of CAH is expected in countries where consanguinity is common, such as in the countries of the WHO Eastern Mediterranean Region (EMRO). CAH is managed through lifelong treatment with fludrocortisone and hydrocortisone. In this analysis, performed in the 22 EMRO countries and territories plus Algeria, we review which countries offer a neonatal screening programme for CAH and describe the barriers and opportunities to access oral fludrocortisone and oral and injectable hydrocortisone. Neonatal CAH screening was only available nationally in Qatar, Kuwait and partially in Lebanon and Saudi Arabia. We reviewed the national lists of essential medicines (NEMLs) and found that 13/23 (57%) countries included fludrocortisone and 18/23 (78%) included oral hydrocortisone. Fludrocortisone was not included by any of the low-income countries and oral hydrocortisone was only included by one low-income country. We then contacted paediatric endocrinologists in each country to assess perceived availability of these medicines. Overall, there was a relatively good consistency between inclusion of fludrocortisone and hydrocortisone in the NEML and their actual availability in a country. We propose several mechanisms to improve access, including prequalification by the WHO, a common registration process for groups of countries, pooled procurement, working with local pharmaceutical companies, special access status for medicines not yet registered in a country and compounding. We suggest that access to medicines requires a collaboration between health professionals, families of patients, health authorities, pharmaceutical companies and the WHO.

Approach of Heterogeneous Spectrum Involving 3beta-Hydroxysteroid Dehydrogenase 2 Deficiency

“…Elevated levels of 17OHP may be associated with 3βHSD2 deficiency due to peripheral conversion by the 3βHSD type I enzyme. High 17OHP levels are false positives for 21OH deficiency in neonatal screening programs according to some of the mentioned studies [ 5 , 60 , 101 , 102 , 103 , 104 ]. Certain countries introduced screening protocols based on 17OHP immunoassays (dried blood spot) which are less useful in non-severe cases and non-classical forms of 21OH deficiency and non-21OH types [ 24 , 103 , 105 ].…”

Genotype, Mortality, Morbidity, and Outcomes of 3β-Hydroxysteroid Dehydrogenase Deficiency in Algeria

“…Owing to problems with fludrocortisone availability, three patients were not receiving this at the time of their last evaluation, and the remaining patients were on a dose of 54 ± 25 μg/day. Of note, fludrocortisone treatment is either imported from Spain twice a year in bulk by compassionate health professionals or provided at cost or for free to the patients at the discretion of the pediatric endocrinologist or shipped directly by family members living abroad (28).…”