ArticleJournal of clinical and diagnostic research : JCDR2013
The Sertoli Cell Only Syndrome and Glaucoma in a Sex - Determining Region Y (SRY) Positive XX Infertile Male.
Article in Journal of clinical and diagnostic research : JCDR, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- 46,XX Testicular Disorder of Sex Development (DSD): A Case Report and Systematic Review.Medicina (Kaunas, Lithuania) · 2019Pooled it
- Sertoli cell-only syndrome: etiology and clinical management.Journal of assisted reproduction and genetics · 2021Review
- Erectile function in SRY positive 46,XX males with normal phenotype.Central European journal of urology · 2021Article
- Detection of SRY-positive46,XX male syndrome by the analysis of cell-free fetal DNA via non-invasive prenatal testing.Clinical case reports · 2019Article
- 46 XX male syndrome with hypogonadotropic hypogonadism: A case report.Northern clinics of Istanbul · 2019Article
- Genetic defects in human azoospermia.Basic and clinical andrology · 2019Article
- Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome.Iranian journal of public health · 2016Article
- Prenatal diagnosis of a 46,XX male following noninvasive prenatal testing.Clinical case reports · 2015Article
- 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature.BMC urology · 2014Review
- Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with SRY-positive.BMC urology · 2014Article
- 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
- 46 XX karyotype during male fertility evaluation; case series and literature review.Asian journal of andrologyReview
- A 46,XX Karyotype in Men with Infertility: Two New Cases and Review of the Literature.Journal of human reproductive sciencesArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The XX male syndrome is a rare genetic disorder. The phenotype is variable; it ranges from a severe impairment of the external genitalia to a normal male phenotype with infertility. It generally results from an unequal crossing over between the short arms of the sex chromosomes (X and Y). We are reporting a case of a 38-year-old man who presented with infertility and the features of hypogonadism and glaucoma. The examinations revealed normal external male genitalia, soft small testes, gynaecomastia and glaucoma. The semen analysis showed azoospermia. The serum gonadotropins were high, with low Anti Mullerian Hormone (AMH) and Inhibin B levels. The chromosomal analysis demonstrated a 46, XX karyotype. Fluorescent In-Situ Hybridization (FISH) and Polymerase Chain Reaction (PCR) revealed the presence of a Sex-determining Region Y (SRY). Testicular Fine Needle Aspiration Cytology (FNAC) revealed the Sertoli Cell Only Syndrome (SCOS). The presence of only Sertoli Cells in the testes, with glaucoma in the XX male syndrome, to our knowledge, has not been reported in the literature.
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Registered trials
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