background: congenital adrenal hyperplasia (cah) and vanishing testes are uncommon diseases that can result from hormonal and mechanical factors. classic cah is determined by ambiguous genitalia and increase in amount of 17-hydroxyprogesterone. simultaneous occurrence of cah and vanishing testes is a rare condition. case: a 22-year-old boy, known case of cah who was diagnosed as female pseudohe...

background: x-linked lissencephaly with ambiguous genitalia (xlag) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. xlag is responsible for a severe neurological disorder of neonatal onset in boys. a gyration defect con...

Intersex disorders are rare congenital malformations with over 80% being diagnosed with congenital adrenal hyperplasia (CAH). It can be challenging to determine the correct gender at birth and a detailed understanding of the embryology and anatomy is crucial. The birth of a child with intersex is a true emergency situation and an immediate transfer to a medical center familiar with the diagnosi...

introduction: ambiguous genitalia is a medical emergency in newborns and effort is made to perform sex reassignment and reconstructive surgery as soon as possible. however, conflict between the assigned sex and later gender identity are still present in many cases. this discrepancy between sexual and gender identities leads to several complications that are the focus of the present study. mater...