{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,26]],"date-time":"2026-03-26T12:04:16Z","timestamp":1774526656737,"version":"3.50.1"},"reference-count":18,"publisher":"Walter de Gruyter GmbH","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,6,27]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2021-0696_abs_001\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Congenital adrenal hyperplasia (CAH) remains one of the most challenging endocrine disorders to\u00a0diagnose, manage, and treat, especially in Africa where there is lack of neonatal screening program, and limited access to care. Data on biomolecular anomaly are sparse, therefore type of mutations are unknown, increasing management challenges and genetic counseling. The present study aims to describe clinical, biomolecular aspects of a group of Cameroonian patients.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0696_abs_002\">\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>We did an observational retrospective study at\u00a0the pediatric endocrinology unit of the Mother and Child\u00a0Centre of the Chantal Biya Foundation in Yaounde from May 2013 to December 2019, including all patients diagnosed with CAH.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0696_abs_003\">\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>We consecutively included 31 patients aged less\u00a0than 21 years, diagnosed CAH. Median age at diagnosis was 1.71 years (IQR 0.08\u20132.57 years). Abnormal genitalia was the main complain in 48.4%(n=15). The most prevalent genetic anomaly found in our study population (n=24) was\u00a0on CYP11, found in 16 patients (66.6%) followed by\u00a0CYP21A2 mutation found in 8 patients. Homozygous mutation of p.Q356X was found in half of patients with 11\u00a0hydroxylase deficiency. This mutation was mostly found\u00a0in people from semi-Bantu tribes, declared non consanguineous.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2021-0696_abs_004\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>11 hydroxylase deficiency is the most prevalent form of CAH found in this group of Cameroonian children.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2021-0696","type":"journal-article","created":{"date-parts":[[2022,5,2]],"date-time":"2022-05-02T14:35:02Z","timestamp":1651502102000},"page":"777-783","source":"Crossref","is-referenced-by-count":2,"title":["Clinical, biochemical, and biomolecular aspects of\u00a0congenital adrenal hyperplasia in a group of\u00a0Cameroonian children and adolescents"],"prefix":"10.1515","volume":"35","author":[{"given":"Suzanne Sap","family":"Ngo Um","sequence":"first","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Mother and Child Centre of Chantal Biya Foundation , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ritha Mbono","family":"Betoko","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Pharmaceutical Sciences of the University of Douala, Laquintinie Hospital of Douala , Douala , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Mekone","sequence":"additional","affiliation":[{"name":"General Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ad\u00e8le Bodieu","family":"Chetcha","sequence":"additional","affiliation":[{"name":"Central Hospital of Yaounde , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Veronique","family":"Tardy","sequence":"additional","affiliation":[{"name":"Hopital Debrousse, Laboratoire de Biologie Moleculaire , Lyon , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sophie","family":"Dahoun","sequence":"additional","affiliation":[{"name":"University Hospital of Geneva , Geneva , Switzerland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pierre Yves","family":"Mure","sequence":"additional","affiliation":[{"name":"Hospices Civils Lyon , Lyon , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ingrid","family":"Plotton","sequence":"additional","affiliation":[{"name":"Hospices Civils de Lyon , Lyon , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yves","family":"Morel","sequence":"additional","affiliation":[{"name":"Hospices Civils Lyon , Lyon , France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine Etoa","family":"Etoga","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences of the University of Yaounde I Central Hospital of Yaounde , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyn Tony","family":"Nengom","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences of the University of Yaounde I, Mother and Child Centre of Chantal Biya Foundation , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Boniface","family":"Moifo","sequence":"additional","affiliation":[{"name":"Gyneco-Obstetric Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Faustin Mouafo","family":"Tambo","sequence":"additional","affiliation":[{"name":"Gyneco-Obstetric Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eug\u00e8ne","family":"Sobngwi","sequence":"additional","affiliation":[{"name":"Central Hospital of Yaounde, Faculty of Medicine and Biomedical Sciences of the University of Yaounde I , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul Koki","family":"Ndombo","sequence":"additional","affiliation":[{"name":"Faculty of Medicine and Biomedical Sciences , Mother and Child Center of the Chantal Biya Foundation Yaounde , Yaound\u00e9 , Cameroon"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2022,5,2]]},"reference":[{"key":"2023033122444472569_j_jpem-2021-0696_ref_001","doi-asserted-by":"crossref","unstructured":"Speiser, PW Congenital adrenal hyperplasia. 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