title: A rare case of mixed gonadal dysgenesis with mosaicism 45, X/46, X, +mar.
abstract: BACKGROUND
  We present a rare patient case with mixed gonadal dysgenesis as a disorder of sex development (DSD) and a new pattern of chromosome in the karyotype, 45, X/46, X, +mar(Y).
  
  
  METHODS
  A ten-year-old boy, raised in a nursery center, presented with ambiguous genitalia. Two cell lines, (45, X) and [46,X, +mar(Y)] were observed utilizing cytogenetic investigation including fluorescence in situ hybridization (FISH) which were carried out on his peripheral lymphocytes. A significantly higher percentage (75%) of Y-containing cells was observed in the blood, which could be considered the major reason why the case did not have distinct ambiguous genitalia. A further explorative laparoscopic procedure was performed, during which orchiectomy was performed, and remnants of Müllerian duct were excised.
  
  
  CONCLUSIONS
  A complete and sufficiently careful medical evaluation and genetics counseling of neonates is highly recommended in order to avoid any delayed insufficient diagnostic, conservative, and therapeutic care in children living with guardians rather than their biological parents. Both molecular and cytogenetic studies are recommended in some DSDs to help early diagnosis of the disease, which is important for further essential surgical approaches.
  
  
  CONCLUSIONS
  Cytogenetic studies followed by a laparoscopic exploratory and surgical survey are helpful tools for unraveling the mosaicism involving sex chromosomes and the complicated process in mixed gonadal dysgenesis patients.
authors.affiliation: Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran; Department of Pediatrics, Hazrat Rasool-e-Akram Medical Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: fsoheilipour@yahoo.com.
authors.forename: Fahimeh
authors.initials: F
authors.lastname: Soheilipour
authors.affiliation: Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: abed.surgery@gmail.com.
authors.forename: Ommolbanin
authors.initials: O
authors.lastname: Abed
authors.affiliation: Department of Medical Genetics and Molecular Biology, School of Medicine, Iran University of Medical Sciences, Tehran, Iran. Electronic address: b_behnam@yahoo.com.
authors.forename: Babak
authors.initials: B
authors.lastname: Behnam
authors.affiliation: Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: mra_75@yahoo.com.
authors.forename: Mohammadreza
authors.initials: M
authors.lastname: Abdolhosseini
authors.affiliation: Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: dralibeigi@yahoo.com.
authors.forename: Peyman
authors.initials: P
authors.lastname: Alibeigi
authors.affiliation: Minimally Invasive Surgery Research Center, Iran University of Medical Sciences, Tehran, Iran. Electronic address: apazouki@yahoo.com.
authors.forename: Abdolreza
authors.initials: A
authors.lastname: Pazouki
keywords: Karyotype; Laparoscopic surgery; Mixed gonadal dysgenesis