Introduction: Disorders of sexual development (DSD) include etiologically heterogeneous group of patients that have disorders of genital development. Consensus guidelines that are currently used, divide all DSD in three main groups - sex chromosomal abnormalities, XX or XY DSD, all divided in subgroups in dependence of genetics and hormonal tests. The phenotypic spectrum of external genitalia, gonads and development of Wolfian and Mulerian duct derivatives varies in all patients. Many syndromic cases stayed unclassified and without easily reached etiology.
Materials and Methods: We describe ten patients with DSD. All patients have ambiguous genitalia with different Prader staging. Phenotypic recognition, imaging, as well as karyotypic, hormonal and biochemical tests were evaluated in all. Six of them had XY and the remaining four had XX karyotype. Additional anomalies were found in 3 patients where syndromic condition was detected.
Discussion and conclusions: The diagnosis of represents one of the conditions in the neonatal period that need urgent diagnosis and in some cases, early treatment. In some cases the condition stayed undetected till puberty. Clinicians often face many difficulties in performing and providing all necessary genetic and laboratory tests. Clinical workout and diagnostic evaluation paths were constructed in order to facilitate gender assignment in infants as soon as possible. Some of the investigations are not easily available, they are time-consuming, also some conditions still don't have proven molecular defect. Advances in identification of the molecular and hormonal defect, as well as multidisciplinary approach improved the medical care, psycho social and ethical issues in patients with DSD.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology