ESPE2024 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (24 abstracts)
Outcome of antenatal treatment in congenital adrenal hyperplasia due to 21 hydroxylase-deficiency in Algeria
Yasmina Ouarezki 1,2 , Nadia Cherfi 3 , Wassila Abbas 4 , Leila Mimouni 5 , Adel Djermane 6 , Kahina Mohammedi 7 , Veronique Tardy 8 , Rita Menassa 8 , Florence Roucher 8 , Ouardia Ibsaine 7 , Zahir Bouzerar 9 , Hachemi Maouche 1 , Houria Zeggane 1 & Asmahane Ladjouze 9
1EPH Hassan Badi, Belfort, Algiers, Algeria. 2Faculte de Medecine d'Alger, Algiers, Algeria. 3CHU Mustapha, Algiers, Algeria. 4Private practice, Bab Ezzouar, Algiers, Algeria. 5Private practice, Cheraga, Algiers, Algeria. 6EPH Hassan Badi, Blefort, Algiers, Algeria. 7EPH Ain Taya, Algiers, Algeria. 8Hospices Civils de Lyon, Lyon, France. 9CHU Lamine Debaghine, Bab El Oued, Algiers, Algeria
Introduction: 21-hydroxylase deficiency (21-OHD) is the most common cause of female virilisation at birth and carries heavy psychosocial consequences. Early antenatal treatment with dexamethasone is successful in avoiding severe virilisation, thus reducing the need for surgery and improving psychological outcome.
Objectives: To evaluate the feasibility and effectiveness of antenatal treatment in 21-OHD in a resource-limited setting.
Material and Methods: Retrospective study of pregnancy and foetal outcome in mothers receiving antenatal dexamethasone treatment. Patients were recruited from two paediatric endocrinology clinics in Algeria between March 2015 and January 2024. Parents who had already had an affected child with 21-OHD received counselling prior to future pregnancy and, after full consent, started treatment before 8 weeks gestation. Fetal sex was determined by SRY analysis of maternal blood or ultrasonography, with treatment continued only in female fetuses. Genotype was performed after amniocentesis and treatment continued to the end of the pregnancy in affected fetuses. Treatment outcomes were assessed by Prader stage at birth, maternal problems, and postnatal course.
Results: Of 79 eligible pregnancies, Dexamethasone was started in 48 at mean (range) gestational age (GA) 6+2 (4- 8) weeks, mean dose 20µg/kg (maximum 150 μg) daily. A high rate of consanguinity was noticed in 32/64 (50%). Eighteen male foetuses were identified, 8 by SRY analysis at 9+4 weeks and 10 by ultrasonography at 13 weeks, leaving 30 female fetuses in whom treatment was continued. Amniocentesis was performed in 28 cases at mean GA 17+3 weeks to enable genotyping. CYP21A gene analysis revealed 12 non-affected and 9 heterozygotic fetuses in whom treatment was stopped and 7 fetuses with severe classical 21-OHD in whom treatment was continued until birth. Of these, 6 girls had normal external genitalia, Prader II in one (cf Prader IV-V in 7 previously affected sisters). Excessive weight gain (n = 6) and striae (n = 6) were the most common maternal side effects. Treatment was stopped during third trimester because of high blood pressure (n = 1) and uncontrolled gestational diabetes (n = 1). Restricted fetal growth was noticed in two affected girls but none of the treated cohort showed congenital malformations or postnatal/developmental problems.
Conclusion: We have shown that antenatal treatment for 21-OHD is both feasible and highly effective in a resource-limited setting. Given the devastating impact of virilisation on girls and families in our society, particularly in rural communities, these results are encouraging. However, long term follow-up of the boys and non affected girls who received dexamethasone remains essential.
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