45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
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Juliana Gabriel Ribeiro de Andrade
Abstract
Background:
The 45,X/46,XY karyotype has been associated with mixed gonadal dysgenesis (MGD) and ovotesticular disorder of sex development (DSD). Our aim was to revise the diagnosis of ovotesticular DSD in two patients in the context of a retrospective study of 45,X/46,XY subjects with genital ambiguity.
Case presentation:
Patient 1 had a left streak gonad; the right one was considered an ovotestis. Patient 2 had a right testis; the left gonad was considered an ovary. Revision of the histological sections was performed. Both the “ovarian” part of the right gonad of patient 1 and the left “ovary” of patient 2 contained ovarian-type stroma with clusters of sex-cordlike structures and rare germ cells, compatible with undifferentiated gonadal tissue (UGT). Misdiagnosis of ovarian tissue in patients with 45,X/46,XY mosaicism or its variants could also be found in six published case reports.
Conclusions:
A distinction between 45,X/46,XY ovotesticular DSD and MGD should be made on past and future cases keeping in mind that UGT may be mistaken as ovarian tissue.
Acknowledgments
The authors are grateful to the Cytogenetics Laboratory of the Department of Medical Genetics, Faculty of Medical Sciences, and to Center for Molecular Biology and Genetic Engineering – CBMEG, State University of Campinas (Unicamp).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: This work was supported by Fapesp (2011/50189-7).
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
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- Parent reported nutritional risk and laboratory indices of cardiometabolic risk and in preschool-aged children
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- Atopy as a risk factor for subclinical hypothyroidism development in children
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- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
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- 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
- MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month
Artikel in diesem Heft
- Frontmatter
- Editorial
- Endocrine aspects in cystic fibrosis
- Original Articles
- A retrospective analysis of longitudinal changes in bone mineral content in cystic fibrosis
- Cystic-fibrosis related-diabetes (CFRD) is preceded by and associated with growth failure and deteriorating lung function
- Partial clinical remission in type 1 diabetes: a comparison of the accuracy of total daily dose of insulin of <0.3 units/kg/day to the gold standard insulin-dose adjusted hemoglobin A1c of ≤9 for the detection of partial clinical remission
- Concentrations of leptin, adiponectin and other metabolic parameters in non-obese children with Down syndrome
- Parent reported nutritional risk and laboratory indices of cardiometabolic risk and in preschool-aged children
- Multinodular goiter in children: treatment controversies
- Atopy as a risk factor for subclinical hypothyroidism development in children
- Mutation analysis of the NKX2.5 gene in Iranian pediatric patients with congenital hypothyroidism
- Health-related quality of life among children with Turner syndrome: controlled cross-sectional study
- Growth and pubertal patterns in young survivors of childhood acute lymphoblastic leukemia
- Clinical features and genotyping of patients with primary carnitine deficiency identified by newborn screening
- Letter to the Editor
- Sensitivity and specificity of cystic fibrosis-related diabetes screening methods: which test should be the reference method?
- Case Reports
- Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation
- Severe hypertriglyceridemia at new onset type 1 diabetes mellitus
- 45,X/46,XY ovotesticular disorder of sex development revisited: undifferentiated gonadal tissue may be mistaken as ovarian tissue
- MRI in medium-chain acyl-coenzyme a dehydrogenase deficiency: neuroimaging during the first month
