ArticleClinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology2020
46,XX male disorder of sexual development.
Article in Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 14 citations in OpenAlex.
- Sexual functioning, mental health and quality of life in 46,XX male: a case report.Journal of medical case reports · 2026Article
- A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development.Diagnostics (Basel, Switzerland) · 2026Article
- Male refractory hypospadias with sexual reversal: a case report.Journal of medical case reports · 2023Article
- XX Male: Early Detection With Prenatal Testing.Cureus · 2023Article
- The importance of genetic research in cases of severe male factor infertility: A case of 46,XX testicular disorder of sex development.JBRA assisted reproduction · 2022Article
- A Rare Case of 46, XX (SRY+) With Normal Male Stature and Unilateral Absence of the Vas Deferens.Journal of family & reproductive health · 2021Article
- Sex-determining Region of Y-gene Translocation and 46,XX Testicular Disorders of Sex Development: Cytogenetic and Molecular Insights into Male Infertility.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
An individual's sexual phenotype is usually determined by the presence or absence of the Y chromosome in the embryo's karyotype, however, due to abnormal X/Y terminal exchange through male meiosis, a few individuals develop male genitalia in the absence of the Y chromosome. This case report presents an adolescent referred to the Pediatric Endocrinology Unit due to bilateral gynecomastia. A diagnosis of hypergonadotropic hypogonadism was established and chromosomal analysis disclosed 46,XX karyotype, with the
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Registered trials
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