Early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis
| Autor: | Antonino Forabosco, Annibale Volpe, Francesco Rivasi, V. Mazza, I. Di Monte, F. Baldassari, C. Ottolenghi |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Adult
Male medicine.medical_specialty Amniotic fluid Gonadal dysgenesis Genetic Counseling Prenatal diagnosis Biology Gonadal Dysgenesis XY XY gonadal dysgenesis Diagnosis Differential Pregnancy Prenatal Diagnosis Diagnosis medicine Humans Conceptus First Genetics (clinical) Ultrasonography Gonadal Dysgenesis 46 XY Gynecology Fetus Induced Abortion Infant Obstetrics and Gynecology Abortion Induced Karyotype medicine.disease Pedigree Pregnancy Trimester First Testis determining factor Differential Female Pregnancy Trimester Induced Adult Diagnosis Differential Female Genetic Counseling Gonadal Dysgenesis 46 diagnosis/genetics/pathology/ultrasonography Humans Infant Male Pedigree Pregnancy Pregnancy Trimester First Prenatal Diagnosis diagnosis/genetics/pathology/ultrasonography |
| Zdroj: | Prenatal Diagnosis. 23:716-721 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.673 |
| Popis: | Objectives We present a case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis, by combining early genetic and sonographic evaluations. Methods The conceptus of a mother with a first child affected by 46,XY gonadal dysgenesis was sonographically evaluated at 21- and 23-mm BPD (12+2 and 12+6 LMP-based age) and the female genitalia were observed. Karyotype analyses was performed on amniotic fluid and it revealed a 46,XY complement without mosaicism. SRY was amplified by PCR for molecular analyses. Results We observed a discordance between female phenotype detected at 21 and 23 mm of biparietal diameter (12+2 and 12+6 LMP-based age) and male karyotype. In the child and the fetus, seminiferous cords were not recognisable, whereas rare Leydig cells and no germ cells could be identified. Internal and external genitalia were sexually ambiguous in the child and feminized in the fetus. Conclusion This is the first case of early prenatal diagnosis of recurrent 46,XY partial gonadal dysgenesis and it points to the importance of combining early analyses of genetic sex with sonography in the management of anomalies of sexual development, with particular regard to syndromes for which the risk of recurrence is little understood. Copyright © 2003 John Wiley & Sons, Ltd. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text