ReviewAsian journal of andrology
46 XX karyotype during male fertility evaluation; case series and literature review.
Review in Asian journal of andrology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 43 citations in OpenAlex.
- 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.Medicina (Kaunas, Lithuania) · 2019Pooled it
- Article
- 46,XX Testicular Disorder of Sex Development (DSD) Presenting With Male Hypogonadism.JCEM case reports · 2025Article
- Retrospective analysis of children with 46,XX testicular/ovotesticular DSD: a 10-year single-center experience.Frontiers in endocrinology · 2025Article
- Article
- XX Male: Early Detection With Prenatal Testing.Cureus · 2023Article
- From Diagnosis to Treatment: Comprehensive Care by Reproductive Urologists in Assisted Reproductive Technology.Medicina (Kaunas, Lithuania) · 2023Review
- Hypergonadotropic hypogonadism and chromosomal aberrations: clinical heterogeneity and implications on the health of elderly men, case series.BMC endocrine disorders · 2023Article
- Screening Y Chromosome Microdeletion in 1121 Men with Low Sperm Concentration and the Outcomes of Microdissection Testicular Sperm Extraction (mTESE) for Sperm Retrieval from Azoospermic Patients.The application of clinical genetics · 2023Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- 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 Presentation of Disorder of Sex Development.Cureus · 2021Article
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- 46,XX male disorder of sexual development.Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2020Article
- Male patient 46,XX SRY-negative and unambiguous genitalia: A case reportBiomedica : revista del Instituto Nacional de Salud · 2019Article
- Sexual dysfunction and male infertility.Nature reviews. Urology · 2018Review
- A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.Journal of human reproductive sciencesArticle
- Ten cases with 46,XX testicular disorder of sex development: single center experience.International braz j urol : official journal of the Brazilian Society of UrologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Forty-six XX disorder of sex development is an uncommon medical condition observed at times during the evaluation of a man's fertility. The following is a case series and literature review of phenotypically normal men diagnosed with this karyotype. Our goal is to comprehend the patients' clinical presentation as well as their laboratory results aiming to explore options available for their management. A formal literature review through PubMed and MEDLINE databases was performed using "46 XX man" as a word search. A total of 55 patients, including those conveyed in this article were diagnosed with a 46 XX karyotype during their fertility evaluation. The patients' mean age ± s.d. was 34 ± 10 years and their mean height ± s.d. was 166 ± 6.5 cm. Overall, they presented with hypergonadotropic hypogonadism. Sexual dysfunction, reduced hair distribution, and gynecomastia were reported in 20% (4/20), 25.8% (8/31), and 42% (13/31) of the patients, respectively. The SRY gene was detected in 36 (83.7%) and was absent in the remaining seven (16.3%) patients. We found that a multidisciplinary approach to management is preferred in 46 XX patients. Screening for remnants of the mullerian ducts and for malignant transformation in dysgenetic gonads is imperative. Hypogonadism should be addressed, while fertility options are in vitro fertilization with donor sperm or adoption.
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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.