Background: Disorders of sex genitalia are a large group of genetic disorders whose management is still unaffordable in many countries in sub Saharan Africa. In Cameroon, although many collaborative initiatives of management are developed, little data are available.
Objectives: Describe epidemiological clinical, aetiologies and management aspect of DSD in a developing country.
Patients and methods: This is a 5 years retrospective study. All patients referred for DSD in the single paediatric endocrinology service of the Mother and Child Centre of Chantal Biya Foundation was reviewed. Socio epidemiological variables, external genitalia were described as so as internal sex organs and tanner stage. 17 hydroxyprogesterone, sexual steroids were measured, when possible caryotype and gene sequencing were done.
Results: We included 65 patients with a median age at consultation of 2.6 years. No consanguinity was found. Sex assignment was already done in 89.2% of them. After hormonal assay and genetic testing (when available) congenital adrenal hyperplasia was found in 26 (40%), gonadal dysgenesis in 14 (21%), 7 (10.5%) ovotestis, were main diagnosis. There was a wrong initial sex assignment in 20% of patients with CAH leading to extreme management difficulties.
Conclusion: CAH is the main aetiology of DSD in this single pediatric endocrinologic center. There is a wrong sex assignment in many cases leading in extreme management difficulties questioning the issue of midwives training and neonatal screening in our setting.
10 - 12 Sep 2016
European Society for Paediatric Endocrinology