Clinical Presentation and Etiologic Diagnosis of Disorders of Sex Development in Children in Senegal
Babacar Niang *
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Fatou Ly
Neonatology Unit, Pikine Hospital Center, Dakar, Senegal.
Younoussa Keita
Nephrology Unit, Abass Ndao Hospital Center, Dakar, Senegal.
Aminata Mbaye
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Djibril Boiro
Endocrinology Unit, Abass Ndao Hospital Center, Dakar, Senegal.
Amadou Sow
Endocrinology Unit, Abass Ndao Hospital Center, Dakar, Senegal.
Abou Ba
Pediatrics’ Department, Dalal Jam Hospital, Dakar, Senegal.
Indou Deme/Ly
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Aliou Thiongane
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Aliou Ndongo
Nephrology Unit, Abass Ndao Hospital Center, Dakar, Senegal.
Papa Moctar Faye
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Amadou Lamine Fall
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
Ousmane Ndiaye
Endocrinology Unit, Albert Royer Children Hospital, Dakar, Senegal.
*Author to whom correspondence should be addressed.
Abstract
Introduction: Disorders of Sex Development (DSD) refer to situations where chromosomal, gonadal or anatomical sex is atypical. We aimed to describe the baseline characteristics on clinical and etiological diagnosis of DSD in Senegalese children.
Methods: This retrospective cohort study over a period of 8 years (2015-2022) included all children aged 0 to 18 years followed for DSD at the pediatric endocrinology department of NCHAR in Dakar. Sociodemographic clinical, paraclinical (genetics, imaging, hormonal) parameters were collected and analyzed with Epi Info 7.2. The description was made using position and dispersion parameters and illustrations in the form of appropriate tables and graphs. Bivariate analysis was used for associations between variables, with an alpha error risk of 5% and a CI of 95%. All ethical rules have been respected.
Results: We included 102 DSD cases. Only 61 patients (59.80%) had a genetic diagnosis. Mean age at diagnosis was 31.2 ± 46.6 months. Rearing sex of child was male in 35 cases (57.38%) and female in 22 cases (36.06%) and undetermined in 4 cases (6.56%). Based on karyotype analysis, 31(50.82%) of children had 46,XY DSD, 27 (44.26%) had 46,XX DSD and three (4.92%) children with sex chromosome DSD. Etiologies were dominated by congenital adrenal hyperplasia (81.48%) and androgen insensitivity (38.71%) in 46,XX and 46,XY DSD respectively. External masculinization score > 4, palpation of a gonad, a phallus length > 2.5, a single urogenital orifice as well as ultrasound sex were associated with the XY karyotype.
Conclusion: Health care professional and medical students should be trained for early diagnosis. A national guideline should be developed for diagnosis and management of DSD during and beyond the pediatric age group, and adapted to evidence and available resources. This can only be achieved if the management of DSD is supported by universal health insurance.
Keywords: DSD, congenital adrenal hyperplasia, androgen insensitivity, karyotype, Senegal