ESPE2024 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (24 abstracts)
Ovotesticular DSD at Mother and Child Center in Cameroon: clinical and biomolecular aspects
Suzanne Sap 1,2 , Ritha Carole Mbono Betoko 3 , Boniface Moifo 4 , Jocelyn Tony 4 , Adele Bodieu 5 , Faustin Mouafo 4 , Delphine Mallet 6 , Ingrid Plotton 6 & David Chelo 4
1University of Ebolowa, Ebolowa, Cameroon. 2Mother and Child Center, Yaounde, Cameroon. 3University of Douala, Douala, Cameroon. 4University of Yaounde I, Yaounde, Cameroon. 5Yaounde Central Hospital, Yaounde, Cameroon. 6Hospices Civils De Lyon, Lyon, France
Introduction: Variation of sex development are rare diseases with diverse aetiologies. Ovotesticular diseases are not well described in Sub Saharan countries, justifying the present study with aimto draw the clinical and biomolecular aspects in a paediatric center.
Methods: We did an observational study of patients followed in the Mother and child center of the Yaounde. Ovo testicular DSD was diagnosed on clinical, morphological (ultrasound/surgery) and hormnal arguments. Biomolecular assays were done when possible in two centers in Switzerlad and France. We excluded incomplete files and the sampling was consecutive. Quantitative data are presented as medians and IQR, and qualitative data as counts or proportions.
Results: On 89 patients followed for DSD, 13 had the diagnosis of ovotestis. After diagnosis, sex assignment was male for 10 patients. Median age at diagnosis was 7.7 years (range 0.64-15.98). On initial evaluation, 10 patients had one or 2 palpable gonads, ultrasound revealed a uterus or hemi uterus in 8 patients. A bilateral ovotestis was bilateral in 7 patients. Two third of patient had a 46 XX, SRY – on blood caryotype.
Conclusion: Ovotesticular DSD in mother and child center are 14.5% of DSD, 2/3 are raised boys. Half of patients have bilateral ovotestis. Majority of patients are 46, XX.
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