Searchable abstracts of presentations at key conferences in endocrinology

ea0020p279 | Clinical case reports and clinical reports | ECE2009

Long-term follow-up of a 46XX case with congenital adrenal hyperplasia and male gender identity

Kebapci Nur , Efe Belgin , Kebapci Mahmut , Donmez Turgut , Cetin Cengiz , Hassa Hikmet

Congenital adrenal hyperplasia (CAH) owing to 21 hydroxylase deficiency (21OHD) is an inherited autosomal disorder characterized by diminished glucocorticoid and aldosteron biosynthesis. Partial 21OHD leads to the classical simple virilizing form, characterized by prenatal virilization of external genitalia in female fetuses without salt wasting. Ambiguous genitalia in a genetically female infant is frequently due to CAH. The uncertainty about the sex of a newborn is often inc...