ReviewJournal of clinical medicine2020
Disorders of Sex Development: Classification, Review, and Impact on Fertility.
Review in Journal of clinical medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 1 of them a synthesis that pooled it.
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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.
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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
33 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- A de novo SOX11 mutation causing hypogonadotropic hypogonadism: a case report and literature review.BMC pediatrics · 2026Pooled it
- Ovotesticular disorder of sex development presenting in adolescence with amenorrhea and clitoromegaly-what is your diagnosis?Journal of the Turkish German Gynecological Association · 2026Article
- Delayed Presentation of Classic Bladder Exstrophy Associated With Epispadias and Bilateral Non-Scrotal Testes in an 11-Year-Old Afghan Boy: A Case Report.Clinical case reports · 2026Article
- Robust but independent sex differences in human brain function, structure, and behavior.Nature communications · 2026Article
- Optimizing Care for Undescended Testicles in Children and Adolescents-Diagnosis, Management, and Outcomes: A Narrative Review of Current Evidence.Children (Basel, Switzerland) · 2026Review
- The intersection of disorders of sex development and cardiovascular diseases.Biology of sex differences · 2026Review
- Multi-species integration, alignment and annotation of single-cell RNA-seq data with CAMEX.Nature communications · 2026Article
- Clinical features and genetic characteristics of ovotesticular disorders of sex development: 24 cases from a single center.World journal of urology · 2025Article
- Identifying 17-β-HSD3 Deficiency in Patients with Karyotype 46,XY Misdiagnosed with Androgen Insensitivity Syndrome: A Pediatric Case Report.The American journal of case reports · 2025Article
- Comparison of in utero phthalate exposure on fetal rat testis transcript and endocrine alterations with apical reproductive alterations in male rats.Toxicology and applied pharmacology · 2025Article
- Artificial Gametogenesis and In Vitro Spermatogenesis: Emerging Strategies for the Treatment of Male Infertility.International journal of molecular sciences · 2025Review
- A Novel Mutation in the Androgen Receptor Gene of Female Patients with 46,XY Karyotype.Current issues in molecular biology · 2025Article
- Suspected Ovotesticular Disorders of Sexual Differentiation in a Phenotypic Male With Ambiguous Genitalia, Light Menstrual Flow, and Synchronous Bilateral Dysgerminoma: A Case Report From Ethiopia.Case reports in pediatrics · 2025Article
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- An XY Female.European journal of case reports in internal medicine · 2025Article
- Article
- Cytogenomic description of a Mexican cohort with differences in sex development.Molecular cytogenetics · 2024Article
- Article
- Retrospective Analysis of Effective Management Strategies for Primary Amenorrhea of Reproductive Age in Saudi Arabia.Life (Basel, Switzerland) · 2024Article
- Intersex Pretenders.Archives of sexual behavior · 2024Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In this review, the elements included in both sex determination and sex differentiation are briefly analyzed, exposing the pathophysiological and clinical classification of disorders or anomalies of sex development. Anomalies in sex determination without sex ambiguity include gonadal dysgenesis, polysomies, male XX, and Klinefelter syndrome (dysgenesis and polysomies with a female phenotype; and sex reversal and Klinefelter with a male phenotype). Other infertility situations could also be included here as minor degrees of dysgenesis. Anomalies in sex determination with sex ambiguity should (usually) include testicular dysgenesis and ovotesticular disorders. Among the anomalies in sex differentiation, we include: (1) males with androgen deficiency (MAD) that correspond to those individuals whose karyotype and gonads are male (XY and testes), but the phenotype can be female due to different hormonal abnormalities. (2) females with androgen excess (FAE); these patients have ovaries and a 46,XX karyotype, but present varying degrees of external genital virilization as a result of an enzyme abnormality that affects adrenal steroid biosynthesis and leads to congenital adrenal hyperplasia; less frequently, this can be caused by iatrogenia or tumors. (3) Kallman syndrome. All of these anomalies are reviewed and analyzed herein, as well as related fertility problems.
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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.