The Diagnosis Odyssey of Disorders of Sexual Development: A Case Report of 9p22-pter Deletion Syndrome without Trigonocephaly

Abstract

Introduction: The 9p deletion syndrome is characterized for the presence of trigonocephaly, dysmorphism, genitourinary anomalies and developmental delay. The clinical synopsis depends on the size of the deletion.  Clinical Case: 14 month old infant with disorder of sexual development, developmental delay and dysmorphisms without trigonocephaly. Karyotype with 46,XY,del(9p22)(pter). Discussion: Sexual development disorders are very hard to diagnose, in their primary approach a karyotype is essential, most disorders can be diagnosed through this technique, other studies are also needed. Within these disorders 9p deletion syndrome is the less common, there are around 700 cases reported in the world, therefore it is important to keep contributing to the phenotype-genotype. This patient does not have trigonocephaly which bears the question of what other mechanisms are involved besides haploinsufficiency.