Diagnosis of CAH in a Sub Saharan Country: Visible Part of Iceberg  

作　　者：Suzanne Sap Ritha Mbono Hélène Kamo Jocelyn Tony Charlotte Eposse Jeannette Epée Isabelle Mekone Adele Bodieu Gaelle Ntsoli Paul Olivier Koki Suzanne Sap;Ritha Mbono;Hélène Kamo;Jocelyn Tony;Charlotte Eposse;Jeannette Epée;Isabelle Mekone;Adele Bodieu;Gaelle Ntsoli;Paul Olivier Koki(Mother and Child Center of the Chantal Biya Foundation, University of Yaoundé I, Yaoundé, Cameroon;Laquintinie Hospital, University of Douala, Douala, Cameroon;Genral Hospital of Garoua, University of Garoua, Garoua, Cameroon;Human Reproductive Center and Research on Fertility of Yaoundé, University of Yaoundé I, Yaoundé, Cameroon;Yaounde General Hospital, University of Yaoundé I, Yaoundé, Cameroon;Yaounde Central Hospital, Yaoundé, Cameroon;Laquintiinie Hospital, Douala, Cameroon)

机构地区：[1]Mother and Child Center of the Chantal Biya Foundation, University of Yaoundé I, Yaoundé, Cameroon [2]Laquintinie Hospital, University of Douala, Douala, Cameroon [3]Genral Hospital of Garoua, University of Garoua, Garoua, Cameroon [4]Human Reproductive Center and Research on Fertility of Yaoundé, University of Yaoundé I, Yaoundé, Cameroon [5]Yaounde General Hospital, University of Yaoundé I, Yaoundé, Cameroon [6]Yaounde Central Hospital, Yaoundé, Cameroon [7]Laquintiinie Hospital, Douala, Cameroon

出　　处：《Open Journal of Pediatrics》2024年第2期227-233,共7页儿科学期刊（英文）

摘　　要：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.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.

关 键 词：Congenital Adrenal Hyperplasia 

分 类 号：R73[医药卫生—肿瘤]