Disorders of Sexual Development Postnatal Diagnosis: Clinical Spectrum and Statistical Analyses of 241 Cases - EAP 2019 Congress and MasterCourse Porto Palacio Hotel

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¹Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Reproduction, Farhat Hached University Teaching Hospital, Tunisia
²High Institute of Biotechnology, Monastir University, Tunisia
³Faculty of Medecine, Sousse University, Tunisia
⁴Neonatology Department, Hospital of Fattouma Bourguiba, Tunisia
⁵Department of Obstetrics and Gynecology, Farhat Hached University Teaching Hospital, Tunisia
⁶Department of pediatric surgery, Hospital of Fattouma Bourguiba, Tunisia

Background: Disorders of sex development or DSD (previously called intersex), include a range of conditions that lead to abnormal development of the sex organs and atypical genitalia.

Objective:This retrospective study aimed to describe the clinical and chromosomal profiles of DSD patients. Based on the Chicago Consensus document of 2005 a classification was used in order to gain an increased DSD understanding in Tunisia.

Subjects and Methods: We included 241 DSD patients referred to our department of Cytogenetics, Farhat Hached Hospital Sousse during the survey period (2010-2018). Systematic karyotyping analysis allowed classifying the patients. The consultation phenotypic traits for the most DSD cases are hypospadias, micropenis, infertility and cryptorchidism.

Results: The patients presented at median age of 16 years (range 1 day-44 years). Among the 241 patients, 41.49 % had 46,XY DSD, 36.09% (87/236) had sex chromosome DSD, 16.18% had 46,XX DSD and 6.2%(15) had Structural or number abnormalities of autosomes. Of the 100 patients with 46, XY DSD, 22 had ovotesticular DSD and 15 had pure gonadal dysgenesis.Of the 39 patients with 46,XX DSD,19 (48.71%) had testicular DSD. The most common diagnoses were Klinefelter syndrome (22.82%) and ovotesticular DSD(22%). Molecular diagnosis is assigned for 120 (49.79%) of them. Known Genes implicated in sex differentiation such as SRY, DAX1,SOX9, LHCGR, and SF1 are found as well as candidate genes as NCOR2 and ETKNK2.In our series, as previously reported, approximately half of the patients had 46,XY DSD, whereas only 16.18% of cases had 46,XX DSD. This data emphasis the complex development of male sex differentiation and the late diagnosis of this disorder.

Conclusion: To the best of our knowledge, this is the first study exhibiting statistical analyses of DSD in Tunisia. DSD is relatively undervalued, which makes its diagnosis late. Further molecular studies are necessary since more than 50% are not assigned at the molecular level.