RESUMO
BACKGROUND: Auto-immune polyendocrinopathy syndrome type I is a rare genetic disease, usually revealed by chronic superficial candidiasis and autoimmune endocrine dysfunction in childhood. CASES PRESENTATION: We report the cases of 2 children, a 4 years-11 months old boy and 13 years old adolescent, admitted and followed up in the endocrinology unit of the Mother and Child Centre of Chantal Biya's Foundation for auto-immune polyendocrine syndrome type 1. CONCLUSION: The occurrence of chronic cutaneous candidiasis in a child should always imply endocrine screening, to exclude auto-immune polyendocrine syndrome type I.
Assuntos
Candidíase , Poliendocrinopatias Autoimunes , Adolescente , Atrofia , Candidíase/diagnóstico , Criança , Doença Crônica , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Masculino , Mutação , Poliendocrinopatias Autoimunes/diagnóstico , Poliendocrinopatias Autoimunes/genéticaRESUMO
Introduction According to the current classification of the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Pediatric Endocrinology (ESPE) of Disorders of Sex Development (DSD), etiologies vary around the world. Ethnic or genetic diversity probably explains this variability. We therefore conducted the present study on etiologies of DSDs in a country from central Africa. Methods We carried out an observational retrospective study at the Pediatric Endocrinology Unit of the Mother and Child Centre of the Chantal Biya Foundation in Yaounde, Cameroon from May 2013 to December 2019. All patients diagnosed with a DSD were included, and incomplete files excluded. Results We included 80 patients diagnosed with DSD during the study period. The 46,XX DSD were the most frequent in our study population (n = 41, 51.25%), with congenital adrenal hyperplasia (CAH) as the main diagnosis. The 46,XY DSD accounted for 33.75% and sex chromosome DSD group represented 15% of the study population. Conclusions DSDs are not an exceptional diagnosis in a Sub-Saharan context. 46,XX DSD are the most prevalent diagnosis in our setting. The diagnosis of all these affections is late compared to other centers, justifying advocacy for neonatal screening of DSDs in our context.
