Article
A novel disorder of sex development, characterized by progressive regression of testicular function and cystic leukoencephalopathy.
American journal of medical genetics. Part A - 1 Mar 2017
Rossi Massimiliano, Vasiljevic Alexandre, Labalme Audrey, Dijoud Frédérique, Mallet-Motak Delphine, Petcu Carmen Adina, Touraine Renaud, Vianey-Saban Christine, Guibaud Laurent, Edery Patrick, Sanlaville Damien, Morel Yves
Abstract excerpt
We report a novel syndromic disorder of sex development observed in three male siblings, presenting with the association of micropenis without hypospadias, cryptorchidism, very low level of antimüllerian hormone in the neonatal period, and no persistent müllerian duct structures, suggesting a progressive regression of testicular function. The patients described here showed a striking neurological involvement...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.