دورية أكاديمية
Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development.
| العنوان: | Predictive value of anatomical findings and karyotype analysis in the diagnosis of patients with disorders of sexual development. |
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| المؤلفون: | Arcari AJ; División de Endocrinología, Centro de Investigaciones Endocrinológicas, Hospital de Niños R. Gutiérrez, Buenos Aires, Argentina., Bergadá I, Rey RA, Gottlieb S |
| المصدر: | Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation [Sex Dev] 2007; Vol. 1 (4), pp. 222-9. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: S. Karger Country of Publication: Switzerland NLM ID: 101316472 Publication Model: Print Cited Medium: Internet ISSN: 1661-5433 (Electronic) Linking ISSN: 16615425 NLM ISO Abbreviation: Sex Dev Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Basel ; New York : S. Karger, 2007- |
| مواضيع طبية MeSH: | Disorders of Sex Development/*diagnosis , Disorders of Sex Development/*genetics, Adrenal Hyperplasia, Congenital/complications ; Chromosomes, Human, Y/genetics ; Disorders of Sex Development/etiology ; Female ; Gonadal Dysgenesis, 46,XX/diagnosis ; Gonadal Dysgenesis, 46,XX/etiology ; Gonadal Dysgenesis, 46,XX/genetics ; Gonadal Dysgenesis, 46,XY/diagnosis ; Gonadal Dysgenesis, 46,XY/etiology ; Gonadal Dysgenesis, 46,XY/genetics ; Humans ; Infant, Newborn ; Karyotyping/methods ; Male ; Ovary/metabolism ; Ovary/pathology ; Testis/metabolism ; Testis/pathology |
| مستخلص: | We assessed the predictive value of anatomical findings and karyotype for establishing a diagnostic orientation in patients with disorders of sex development (DSD). We performed a retrospective chart analysis of 228 patients, grouped into 4 categories: 46,XX DSD, non-dysgenetic testicular DSD, dysgenetic testicular DSD and ovotesticular DSD. Degree of virilisation, presence of vagina, presence of palpable gonads, size of gonads and a plain karyotype was available for all cases. 46,XX DSD due to congenital adrenal hyperplasia counted for 59.2% of the cases, non-dysgenetic testicular DSD for 13.6%, dysgenetic testicular DSD for 21.5% and ovotesticular DSD for 5.7%. Excluding congenital adrenal hyperplasia (CAH), a karyotype with at least one 46,XX cell line had a high diagnostic efficiency for ovotesticular DSD. In these patients, anatomical findings were not as useful to predict the gonadal phenotype. The existence of a 45,X cell line predicted with very high efficiency dysgenetic testicular DSD. Genital palpation was only partially helpful to predict the existence of testicular tissue. Non-dysgenetic testicular DSD could be ruled out with high efficiency in patients with an abnormal karyotype. Anatomical findings were helpful in 46,XY patients: palpated masses predicted non-dysgenetic testes with high accuracy. In all cases assessment of gonadal volume was less useful. (2007 S. Karger AG, Basel) |
| تواريخ الأحداث: | Date Created: 20080409 Date Completed: 20080707 Latest Revision: 20101118 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1159/000104772 |
| PMID: | 18391533 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1661-5433 |
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| DOI: | 10.1159/000104772 |