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FOR AUTHORS Endocrine Regulations 2011 Endocrine Regulations Vol.45, No.4, p.205-207, 2011
FOR AUTHORS Endocrine Regulations 2011 Endocrine Regulations Vol.45, No.4, p.205-207, 2011
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Endocrine Regulations Vol.45, No.4, p.205-207, 2011 |
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| Title: Mixed gonadal dysgenesis: whole life follow-up of a rare case | ||
| Author: Z. Teliarova, L. Baqi, Z. Misikova, M. Pura, P. Jackuliak, J. Payer | ||
| Abstract: There are two forms of gonadal dysgenesis – mixed and pure. In the mixed form, some differentiated gonads as well as some either ovarian or testicular rudiments are present. This form results in a number of phenotypes with a possibility of malignant transformation. In the pure form occurring in female gender, also some rudimental gonads are bilaterally present. In the case of simultaneous presence of Y chromosome, also some malignant transformation may appear (Siklar et al. 2007). Chromosomal aberrations are present in 2-7 % adult pairs with fertility disorders and in 0.6 % of newborns. However, only few cases with similar chromosomal aberrations were described so far (Roubin et al. 1977; Alexander et al. 1978; Teyssier et al. 1982; Caglayan et al. 2009). Mixed gonadal dysgenesis presents as a unilateral testis, usually intraabdominal, also with a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is the most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. We present a rare case of a left undescended testis, normally descended right testis, with penoscrotal hypospadias, who had a normal karyotype and whose histopathological findings were endometrial tissue and fallopian tube in left testicular biopsy. Gonadal dysgenesis should always be kept in mind because of a possibility of undescended testis and proximal hypospadias. If karyotype reveals a 46XY gonadal dysgenesis, these patients need the careful follow-up to screen for gonadoblastoma in remaining normal testis. Subjecting the patients to prophylactic orchidectomy with hormone replacement can be an additional option in such patients. |
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| Published online: 10-Nov-2011 | ||
| Year: 2011, Volume: 45, Issue: 4 | Page From: 205, Page To: 207 | |
| doi:10.4149/endo_2011_04_205 |
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