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ey0019.13-6 | Improving access to healthcare in pediatric endocrinology and diabetes | ESPEYB19

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

A Rowlands , A Deeb , A Ladjouze , RT Hamza , SA Musa , J Raza , F Jennane , A Abu-Libdeh , JP Chanoine , the GPED CAH Working Group

jchanoine@cw.bc.ca BMJ Global Health 2021;6:e007195. doi: 10.1136/bmjgh-2021-007195Brief Summary: This review found that access to oral fludrocortisone and hydrocortisone remains suboptimal in the WHO Eastern Mediterranean Region. Improvement requires a collaboration between health professionals, families of patients, health authorities, pharmaceutica...

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ey0020.11-15 | Endocrinology | ESPEYB20

11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria

A Ladjouze , M Donaldson , I Plotton , N Djenane , K Mohammedi , V Tardy-Guidollet , D Mallet , K Boulesnane , Z Bouzerar , Y Morel , F Roucher-Boulez

Brief summary: This study describes the genetic and clinical characteristics of 3βHSD2 deficiency in children seen at a single center in Algeria. It describes clinical outcomes, including the frequency of adrenal rest tumors in this population.3β-hydroxysteroid dehydrogenase 2 deficiency (3βHSD2) is a rare form of congenital adrenal hyperplasia. This mixed longitudinal and cross-sectional study was performed in a single Algerian center bet...

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ey0019.6-6 | Basic and Genetic Research of DSD | ESPEYB19

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

H Zidoune , L Martinerie , DS Tan , M Askari , D Rezgoune , A Ladjouze , A Boukri , Y Benelmadani , K Sifi , N Abadi , D Satta , M Rastari , M Seresht-Ahmadi , J Bignon-Topalovic , I Mazen , J Leger , D Simon , R Brauner , M Totonchi , R Jauch , A Bashamboo , K McElreavey

Sex Dev. 2021;15(4):244-252. PMID: 34293745, doi: 10.1159/000515924.Brief Summary: This genetic study provides data of a large cohort of 140 patients with DSD who were screened for DHX37 variants.DHX37 emerges as a frequent cause of nonsyndromic 46,XY gonadal dysgenesis, and 46,XY testicular regression syndrome. Since the first description of the gene (1), <...

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ESPE Yearbook of Paediatric Endocrinology

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

11.15. Genotype, mortality, morbidity, and outcomes of 3[beta]-hydroxysteroid dehydrogenase deficiency in Algeria

6.6. Expanding DSD phenotypes associated with variants in the DEAH-box RNA helicase DHX37

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