Observational study of disorders of sex development in Yaounde, Cameroon
SNU Sap, R Mbono Betoko, M Etoa Etoga… - Journal of Pediatric …, 2020 - degruyter.com
SNU Sap, R Mbono Betoko, M Etoa Etoga, PY Mure, Y Morel, S Dahoun, F Mouafo Tambo…
Journal of Pediatric Endocrinology and Metabolism, 2020•degruyter.comIntroduction 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 …
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 …
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.
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