ArticleJournal of human reproductive sciences
46XX Testicular Disorder of Sex Development.
Article in Journal of human reproductive sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
- Gonadal Function and Its Evolution in 46,XX Testicular/Ovotesticular DSD.The Journal of clinical endocrinology and metabolism · 2026Article
- Sexual functioning, mental health and quality of life in 46,XX male: a case report.Journal of medical case reports · 2026Article
- 46XX Testicular Disorder of Sex Development.Journal of human reproductive sciencesArticle
- Divergent Gender Identity in a Phenotypic Male with 46XX Karyotype Caused by a Mutation in CYP21A2 Gene with Congenital Adrenal Hyperplasia.International journal of applied & basic medical researchArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this case report, we present the case of a 31-year-old man who presented with primary infertility, azoospermia and occasional sexual dysfunction. History and general physical examination were unremarkable. Local examination showed bilateral low volume testes and remaining aspects of the male reproductive tract were unremarkable. Detailed investigation showed a hypergonadotropic hypogonadism suggestive of primary testicular failure. Genetic screening showed a 46XX karyotype and Y chromosome testing was positive for sex-determining region (SRY) gene. Ultrasound abdomen was normal renal system and adrenal glands. A diagnosis of 46XX testicular disorders of sex development (DSD) was made. The incidence of this disorder is estimated to be 1:20,000 males. Such syndromic male partners generally have normal external genitalia and discover this disorder only in adulthood because of infertility. Such men have small volume testes, azoospermia and hypergonadotropic hypogonadism. Genetic and endocrine consultations are necessary to manage hypergonadotropic hypogonadism. Testicular sperm extraction is not recommended as there are deletions in all regions of Y chromosome, and adoption or assisted reproduction technology with a sperm donor are fertility options.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.