title: Clinical review of 95 patients with 46,XX disorders of sex development based on the new Chicago classification.
abstract: OBJECTIVE
  The aim of our study was to determine the etiologic distribution of 46,XX disorder of sexual development (DSD) according to the new DSD classification system and to evaluate the clinical features of this DSD subgroup in our patient cohort.
  
  
  METHODS
  The evaluation criteria and clinical findings of 95 46,XX patients were described by clinical presentation, gonadal morphology, genital anatomy, associated dysmorphic features, presence during prenatal period with/without postnatal virilization, hormonal characteristics, and presence or absence of steroidogenic defects among 319 patients with DSD.
  
  
  RESULTS
  Types and ratios of each presentation of our 95 patients with 46,XX DSD were as follows: 82 had androgen excess (86.3%): (74 had classical congenital adrenal hyperplasia, 2 had CAH variant possibility of P450-oxidoreductase gene defect), 6 had disorders of ovarian development (6.3%): (1 patient had gonadal dysgenesis with virilization at birth with bilateral streak gonad, 4 patients had complete gonadal dysgenesis, and 1 patient had ovotesticular DSD) and 7 had other 46,XX DSD. Two sisters, who had 46,XX complete gonadal dysgenesis,were diagnosed with Perrault Syndrome with ovarian failure due to streak gonads and associated with sensorineural deafness.
  
  
  CONCLUSIONS
  46,XX DSD are usually derived from intrauterine virilization and CAH is the most common cause of 46,XX DSD due to fetal androgen exposure.
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Gönül
authors.initials: G
authors.lastname: Öcal
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Merih
authors.initials: M
authors.lastname: Berberoğlu
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey. Electronic address: zeynepsklr@gmail.com.
authors.forename: Zeynep
authors.initials: Z
authors.lastname: Sıklar
authors.affiliation: Pediatric Endocrinology, Dr. Sami Ulus Children Hospital, Ankara, Turkey.
authors.forename: Zehra
authors.initials: Z
authors.lastname: Aycan
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Bülent
authors.initials: B
authors.lastname: Hacıhamdioglu
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Şenay
authors.initials: Ş
authors.lastname: Savas Erdeve
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Emine
authors.initials: E
authors.lastname: Çamtosun
authors.affiliation: Pediatric Endocrinology, Department of Pediatric Endocrinology, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Pınar
authors.initials: P
authors.lastname: Kocaay
authors.affiliation: Medical Genetics, Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Hatice I
authors.initials: HI
authors.lastname: Ruhi
authors.affiliation: Pediatric Psychiatry, Department of Pediatric Psychiatry, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Birim G
authors.initials: BG
authors.lastname: Kılıç
authors.affiliation: Medical Genetics, Department of Medical Genetics, Ankara University School of Medicine, Ankara, Turkey.
authors.forename: Ajlan
authors.initials: A
authors.lastname: Tukun
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000145:classification / Q000209:etiology*; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000150:complications* / Q000235:genetics; D002641:Chicago; D002648:Child; D002675:Child, Preschool; D005260:Female; D005835:Genitalia / Q000002:abnormalities; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D050090:Ovotesticular Disorders of Sex Development / Q000150:complications / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
keywords: 46,XX karyotype; Disorders of sex development; Etiology