TITLE:
Diagnosis of CAH in a Sub Saharan Country: Visible Part of Iceberg
AUTHORS:
Suzanne Sap, Ritha Mbono, Hélène Kamo, Jocelyn Tony, Charlotte Eposse, Jeannette Epée, Isabelle Mekone, Adele Bodieu, Gaelle Ntsoli, Paul Olivier Koki
KEYWORDS:
Congenital Adrenal Hyperplasia
JOURNAL NAME:
Open Journal of Pediatrics,
Vol.14 No.2,
March
7,
2024
ABSTRACT: Introduction :Congenital adrenal hyperplasia (CAH) is the most common cause of primary adrenal insufficiency. It is a
rare monogenic recessive disorder. In African setting in absence of neonatal
screening, the diagnosis is still late, based on a clinical approach. During
this clinical enquiry, information from past history or pedigree of the patient
is of a huge importance and may revealed surprises. Patients and Methods: In this observational study, we retrospectively
included all patients with a diagnosis of CAH. The diagnosis of CAH was
retained based on a high 17 hydroxyprogesterone level in addition to clinical
and morphological findings. From patients’ files, we extracted data on family history of disease, pedigree, clinical
findings and genetics when available of 39 patients from two
endocrinopeadiatric centers. Results: In 13 (30%) families, we found 20 reported deaths of
infant less than 12 months. In these 13 families, half of the patients followed
had 21 hydroxylase deficiencies and had 11
hydroxylase deficiencies. Unsurprisingly, we suspected adrenal
insufficiency in these patients at verbal autopsy even in families with a
patient with 11 hydroxylase deficiency. Other
non DSD malformations or genetic disorders with apparently no link with
CAH were reported in 3 families. The father of a patient reported to have
hypospadias. Conclusion: Each diagnosis of CAH made in our context is visible part of an iceberg.
Behind a diagnosis of CAH made in our setting, is a long course of care, a
dramatic past history revealing access to appropriate care disparity. Neonatal
screening should thus be considered as an emergency.