Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.
Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complete clinical assessment, Quigley scoring of external genitalia and pubertal staging. Chromosomal analysis of the peripheral blood lymphocytes, using conventional GTG banding techniquewere done for all patients and FISH analysis was performed whenever indicated
8 patients had numerical sex chromosomal abnormalities; 2 had translocation of a sex chromosome to an autosome; 12 patients had different autosomal abnormalities; 25 patients had apparently normal 46,XY, of them six were clinically diagnosed with recognizable syndromalpresentations ;15 patients had 46,XX karyotype, one of them wasclinically diagnosed as having Rubinstein Taybi syndrome.
The study emphasizes the crucial need to improve the clinical utility of genetic analysis in patients with DSD. Improving the diagnostic strategy of suchcomplicated disorderswill be reflected on the patients and their families regarding possible therapeutic interventions, recurrence risk and carrier detection.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology