Endocrine Abstracts

JOINT3698

Background: Congenital adrenal hyperplasia (CAH) is a group of genetic disorders responsible for defects in adrenal steroidogenesis and resulting in diminished cortisol production. Very few newborns are examined by a paediatrician and screening of neonates with elevated 17-hydroxyprogesterone concentrations is not available in Burkina Faso. Until 2023, there was no pediatric endocrinologist in the country, which is also short of pediatric doctors. We aimed to describe the main characteristics of patients diagnosed with CAH in this country

Patients and Methods: Data were collected from a retrospective program register between 2018 and 2024 in the 2 main cities of Burkina Faso. Diagnostic criteria were the presence of clinically suspected signs with elevated serum 17-hydroxyprogesterone or DOC and/or 11-deoxycortisol concentrations.

Results: Total of 10 children and adolescents (including 9 classic forms) aged between 1 month and 18 years were diagnosed with CAH. The karyotype showed 8 46, XX patients and 2 46, XY patients. Although symptoms had been present since birth, the mean age of diagnosis was 8.5 years. The main symptoms of the 46, XX patients were atypical genitalia (8/8), oligomenorrhea/amenorrhea (4/8), and hirsutism (2/8). For the 46, XY patients there was a post-natal virilization (2/2). Two children were from the same family. Biological assays showed 21-hydroxylase deficiency in 9 patients and 11-hydroxylase deficiency in the 1 remaining patient who also had hypertension. Genetic analysis was performed on a single patient (male), showing a composite heterozygous mutation 668-13C>G. All patients were treated with chronic hydrocortisone therapy and 1 died. The child with 11-hydroxylase deficiency received also a mineralocorticoid receptor antagonist to treat hypertension. Genital surgery was performed in 4/8 46, XX patients.

Conclusion: CAH can result in mortality if left undiagnosed or insufficiently treated. Patients come late for consultation. This can be explained by a lack of knowledge of this pathology by medical staff, but also by the lack of paediatric endocrinologists.