Clinical Review of 95 Patients with 46,XX Disorders of Sex Development Based on the New Chicago Classification

Abstract Study 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. Participants The evaluation criteri...

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Bibliographic Details
Published in:Journal of pediatric & adolescent gynecology 2015-02, Vol.28 (1), p.6-11
Main Authors: Öcal, Gönül, MD, Berberoğlu, Merih, MD, Sıklar, Zeynep, MD, Aycan, Zehra, MD, Hacıhamdioglu, Bülent, MD, Erdeve, Şenay S., MD, Çamtosun, Emine, MD, Kocaay, Pınar, MD, Ruhi, Hatice I., MD, Kılıç, Birim G., MD, Tukun, Ajlan, MD
Format: Article
Language:English
Subjects:
46, XX Disorders of Sex Development - classification
46, XX Disorders of Sex Development - etiology
46,XX karyotype
Adolescent
Adrenal Hyperplasia, Congenital - complications
Adrenal Hyperplasia, Congenital - genetics
Chicago
Child
Child, Preschool
Disorders of sex development
Etiology
Female
Genitalia - abnormalities
Gonadal Dysgenesis - complications
Gonadal Dysgenesis - genetics
Humans
Infant
Infant, Newborn
Obstetrics and Gynecology
Ovotesticular Disorders of Sex Development - complications
Ovotesticular Disorders of Sex Development - genetics
Pediatrics
Retrospective Studies
Young Adult
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Summary:Abstract Study 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. Participants 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. Conclusion 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.
ISSN:1083-3188
1873-4332
DOI:10.1016/j.jpag.2014.01.106