ESPE2022 Poster Category 2 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (30 abstracts)
Study of the epidemiological, clinical and metabolic markers during an anomaly of sexual differentiation in children
Asmae Touzani 1,2 , Salma Chiba 3 , Layachi Chabraoui 2 , Abdelkarim. Filali-Malhouf 3 , Hanaa Abdelmoumen 3 , Abdellah Dami 2 , Lhoucin Balouch3 2 , Yamna Kriouile 1 & Ahmed Gaouzi 1
1Department of Diabetology-Endocrinology-Neurology-Pediatrics-Children's Hospital, Rabat, Morocco; 2Pedagogical Research Unit- Clinical, Metabolic and Molecular Biochemistry University Mohamed V-Faculty of Medicine and Pharmacy, Rabat, Morocco; 3Pedagogical Research Unit -Department of Biology--Biosucurity-Faculty of Sciences, Rabat, Morocco
The anomalies of sexual differentiation correspond to congenital chromosomal, gonadal or phenotypic atypia of sexual development that group together pathologies with an undifferentiated or poorly differentiated aspect of the external genitalia and/or internal, or a state of mismatch between external genitalia and internal organs genitalia. The objective of this work is to describe the epidemiological, clinical and metabolic biomarker profiles in patients with abnormalities of sexual development.
Material and Methods: This is a descriptive cross-sectional study of 80 cases of dsd who are followed in endocrinology -Pediatric consultation between 2013 and 2017.
Results: The frequency of gonosomal abnormalities is 10%, that of XY anomalies of sexual differentiation is 74% and that of XX anomalies of sexual differentiation is 16%. Biomarker results show an elevation of testosterone in 9/61 patients and a decrease in 38/61 patients. 17OHP is elevated in 6/11 patients and low in 1/11 patients. Pelvic ultrasound and genitography were abnormal in 22/29 and 7/15 patients, respectively. The diagnosis of congenital adrenal hyperplasia was made in 20 patients, LH receptor abnormality in 15 patients and testicular regression syndrome in 15 cases, Hypospadias in 9 cases, Turner syndrome in 7 cases, ovotestis in 5 patients, gonadal dysgenesis in 4 cases, hypogonadotropic hypogonadism in 3 cases, Klinefelter's syndrome and deficiency of testosterone secretion in 1 patient.
Conclusion: Our study shows an important frequency of anomalies of sexual differentiation, hence the interest of a systematic neonatal examination of external genitalia organs and of a multidisciplinary management of any anomalies of sexual differentiation in order to allow an adequate orientation and a better vital prognosis.
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