ESPE2022 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (30 abstracts)
What lessons from past history of patients with CAH in a Sub Saharan country?
Suzanne Sap 1,2 , Ritha Mbono 3,4 , Hélène Kamo 5 , Jocelyn Tony 1 , Charlotte Eposse 6 , Jeannette Epee 1 , Isabelle Mekone 1 , Adèle Bodieu 7 & Paul Olivier Koki 2
1The University of Yaounde I, Yaounde, Cameroon; 2Mother and Child Center of the Chantal Biya Foundation, Yaounde, Cameroon; 3The University of Douala, Douala, Cameroon; 4Laquintinie Hospital, Douala, Cameroon; 5University of Garoua, Ngaoundere, Cameroon; 6University of Douala, Douala, Cameroon; 7Yaounde Central Hospital, Yaounde, Cameroon
Introduction: Congenital adrenal hyperplasia 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 form past history or pedigree of the patient are of a huge importance and may revealed surprises
Patients and methods: In this observational study, past history and pedigree of 41 patients from two endocrinopeadiatric centers in Cameroon, were studied. The diagnosis of CAH was retained based on a high 17 hydroxyprogesterone level in addition to clinical and morphological findings.
Results: A contributive past history was found in 14 families (35%). In 12 (30%) families, we found 18 reported deaths of infant less than 12 months. In this 12 families, half of the patients followed had 21 hydroxylase deficiency and had 11 hydroxylase deficiency. 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 was 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. Neonatal screening should thus be considered as an emergency.
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