Hormonal suppression of mini-puberty in a neonate with mosaic 45X/46XY disorder of sexual development

Abstract

Disorders of Sex Development (DSD) are some of the most controversial and challenging conditions that pediatric urologists treat. This may be especially true in mosaic 45X/46XY DSD, due to the inability to ascertain in the neonatal period which gender identity will best suit a given child with this condition. It has therefore been proposed to forgo any irreversible surgical interventions. In order to address the concern of early testosterone production in a nonsurgical manner we describe a case in which we treat a patient with a GnRH agonist to block the early physiologic rise in testosterone during the neonatal mini-puberty.

Keywords

• Disorder of sex development
• Mini-puberty
• GnRH agonist
• Mosaicism
• Testicle
• Testosterone