Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (809 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic testes or ovaries. The spectrum of gonadal and sexual abnormalities is reflected in their varied sex chromosome (sex chromosomes) constitution as shown by the karyotypes of 45,X monosomy (turner syndrome); 46,XX (gonadal dysgenesis, 46XX); 46,XY (gonadal dysgenesis, 46,XY); and sex chromosome mosaicism; (gonadal dysgenesis, mixed). Their phenotypes range from female, through ambiguous, to male. This concept includes gonadal agenesis.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Dysgenesis, Gonadal; Gonadal Agenesis.
Where it fits in the MeSH classification
- Broader topics
- Disorders of Sex Development
- Narrower topics
- Gonadal Dysgenesis, 46,XX; Gonadal Dysgenesis, 46,XY; Gonadal Dysgenesis, Mixed; Sexual Infantilism; Turner Syndrome
Related concepts
- Gonads
- Sex Chromosomes
- Turner Syndrome
- Gonadal Dysgenesis
- Mosaicism
- Mixed
Research landscape
PubMed indexes 11,231 records tagged with the MeSH heading “Gonadal Dysgenesis” (counts retrieved 2026-10-29). 1,001 of them (8.9%) were published from 2020 onward, and the busiest period so far is through 1999 with 6,586 records.
Reviews account for 1,331 records (11.9%) and meta-analyses for 21. Randomized controlled trials number 108 (1.0%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 6,586 |
| 2000-2009 | 1,778 |
| 2010-2019 | 1,866 |
| 2020 onward | 1,001 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 1,331 | 11.9% |
| Meta-analyses | 21 | 0.2% |
| Randomized controlled trials | 108 | 1.0% |
Method: PubMed query "Gonadal Dysgenesis"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in rare and inherited diseases
Rare conditions are difficult to study: few patients means small studies, case reports and registries are common, and randomized trials are the exception. Small samples limit precision and can exaggerate effects, and cases reported in the literature may be the most severe or unusual. Evidence from many small studies is best read together. Check how patients were identified, how many were included and how long they were followed.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| Androgens and the masculinization programming window: human-rodent differences | 2020 | Review article Design not recorded in structured metadata | 90 | cc by PMID 32779695 · DOI · PMC7458408 |
| Endocrine Disrupting Chemicals and Reproductive Health in Boys and Men | 2021 | Review article Design not recorded in structured metadata | 70 | cc by PMID 34690925 · DOI · PMC8530230 |
| In vitro cellular reprogramming to model gonad development and its disorders | 2023 | Research article Design not recorded in structured metadata | 42 | cc by PMID 36598988 · DOI · PMC9812383 |
| Growth hormone therapy and near-final height in SHOX deficiency and turner syndrome: a real-world single-center retrospective cohort study | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42243538 · DOI · PMC13236830 |
Androgens and the masculinization programming window: human-rodent differences [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Human male reproductive disorders are common and may have a fetal origin - the testicular dysgenesis syndrome (TDS) hypothesis.
- Closing excerpt
- Consequently, early placental dysfunction, which is affected by maternal lifestyle and diet, and maternal painkiller use, may be more important than environmental chemical exposures in the origin of TDS in humans.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (251 words)
Human male reproductive disorders are common and may have a fetal origin - the testicular dysgenesis syndrome (TDS) hypothesis. In rats, experimentally induced TDS disorders result from disruption of fetal androgen production/action specifically in the masculinization programming window (MPW). MPW androgen action also programs longer anogenital distance (AGD) in male versus female rats; shorter male AGD is correlated with risk and severity of induced TDS disorders. AGD thus provides a lifelong, calibrated readout of MPW androgen exposure and predicts likelihood of reproductive dysfunction. Pregnant rat exposure to environmental chemicals, notably certain phthalates (e.g. diethyl hexl phthalate, DEHP; dibutyl phthalate, DBP), pesticides or paracetamol, can reduce fetal testis testosterone and AGD and induce TDS disorders, provided exposure includes the MPW. In humans, AGD is longer in males than females and the presumptive MPW is 8-14 weeks' gestation. Some, but not all, epidemiological studies of maternal DEHP (or pesticides) exposure reported shorter AGD in sons, but this occurred at DEHP exposure levels several thousand-fold lower than are effective in rats. In fetal human testis culture/xenografts, DEHP/DBP do not reduce testosterone production, whereas therapeutic paracetamol exposure does. In humans, androgen production in the MPW is controlled differently (human chorionic gonadotrophin-driven) than in rats (paracrine controlled), and other organs (placenta, liver, adrenals) contribute to MPW androgens, essential for normal masculinization, via the 'backdoor pathway'. Consequently, early placental dysfunction, which is affected by maternal lifestyle and diet, and maternal painkiller use, may be more important than environmental chemical exposures in the origin of TDS in humans.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 32779695 · DOI · PMC7458408
Endocrine Disrupting Chemicals and Reproductive Health in Boys and Men [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Male reproductive health has declined as indicated by increasing rates of cryptorchidism, i.
- Closing excerpt
- We review also studies on the association between early life and postnatal EDC exposure and semen quality, hypothalamic-pituitary-gonadal axis hormone levels and testicular cancer.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (170 words)
Male reproductive health has declined as indicated by increasing rates of cryptorchidism, i.e., undescended testis, poor semen quality, low serum testosterone level, and testicular cancer. Exposure to endocrine disrupting chemicals (EDCs) has been proposed to have a role in this finding. In utero exposure to antiandrogenic EDCs, particularly at a sensitive period of fetal testicular development, the so-called 'masculinization programming window (MPW)', can disturb testicular development and function. Low androgen effect during the MPW can cause both short- and long-term reproductive disorders. A concurrent exposure to EDCs may also affect testicular function or damage testicular cells. Evidence from animal studies supports the role of endocrine disrupting chemicals in development of male reproductive disorders. However, evidence from epidemiological studies is relatively mixed. In this article, we review the current literature that evaluated relationship between prenatal EDC exposures and anogenital distance, cryptorchidism, and congenital penile abnormality called hypospadias. We review also studies on the association between early life and postnatal EDC exposure and semen quality, hypothalamic-pituitary-gonadal axis hormone levels and testicular cancer.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 34690925 · DOI · PMC8530230
In vitro cellular reprogramming to model gonad development and its disorders [3]
Abstract reading summary — source excerpts
- Opening excerpt
- During embryonic development, mutually antagonistic signaling cascades determine gonadal fate toward a testicular or ovarian identity.
- Closing excerpt
- This is a robust tool to understand mechanisms of sex determination and model DSDs.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (156 words)
During embryonic development, mutually antagonistic signaling cascades determine gonadal fate toward a testicular or ovarian identity. Errors in this process result in disorders of sex development (DSDs), characterized by discordance between chromosomal, gonadal, and anatomical sex. The absence of an appropriate, accessible in vitro system is a major obstacle in understanding mechanisms of sex-determination/DSDs. Here, we describe protocols for differentiation of mouse and human pluripotent cells toward gonadal progenitors. Transcriptomic analysis reveals that the in vitro-derived murine gonadal cells are equivalent to embryonic day 11.5 in vivo progenitors. Using similar conditions, Sertoli-like cells derived from 46,XY human induced pluripotent stem cells (hiPSCs) exhibit sustained expression of testis-specific genes, secrete anti-Müllerian hormone, migrate, and form tubular structures. Cells derived from 46,XY DSD female hiPSCs, carrying an NR5A1 variant, show aberrant gene expression and absence of tubule formation. CRISPR-Cas9-mediated variant correction rescued the phenotype. This is a robust tool to understand mechanisms of sex determination and model DSDs.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 36598988 · DOI · PMC9812383
Growth hormone therapy and near-final height in SHOX deficiency and turner syndrome: a real-world single-center retrospective cohort study [4]
Abstract reading summary — source excerpts
- Opening excerpt
- Short stature homeobox-containing (SHOX)-gene haploinsufficiency causes short stature both in isolated SHOX deficiency and in Turner syndrome (TS), yet head-to-head data on growth-hormone (GH) outcomes remain scarce.
- Closing excerpt
- • Spontaneous pubertal progression in SHOX deficiency versus medically induced puberty in Turner syndrome may substantially influence the duration of the therapeutic growth window and the observed growth response.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (232 words)
Short stature homeobox-containing (SHOX)-gene haploinsufficiency causes short stature both in isolated SHOX deficiency and in Turner syndrome (TS), yet head-to-head data on growth-hormone (GH) outcomes remain scarce. We therefore compared growth response and near-final height (NFH) after GH therapy between girls with SHOX deficiency and those with TS. Single-centre retrospective cohort study. In this single-centre retrospective cohort, we reviewed 44 pre-pubertal girls who received daily GH (mean 0.045 mg/kg/day) between 2015 and 2024 and subsequently reached NFH (bone age ≥ 14 y; height velocity Conclusions TS was associated with a greater unadjusted height-SDS gain, whereas SHOX deficiency was characterized by earlier puberty and shorter GH exposure. Although observed NFH-SDS was similar, these findings highlight how differences in pubertal timing and treatment duration may influence growth outcomes in routine clinical practice and should be interpreted as reflecting real-world growth trajectories rather than intrinsic biological responsiveness to GH therapy.What is known• Growth hormone therapy is an established treatment for short stature in both SHOX deficiency and Turner syndrome. • Treatment response is influenced by several factors, including age at treatment initiation and pubertal development.What is new• This study provides a real-world comparison of growth hormone treatment outcomes in girls with SHOX deficiency and Turner syndrome. • Spontaneous pubertal progression in SHOX deficiency versus medically induced puberty in Turner syndrome may substantially influence the duration of the therapeutic growth window and the observed growth response.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42243538 · DOI · PMC13236830
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting [5]
- Research article Turner's syndrome [6]
- Research article Turner syndrome: mechanisms and management [7]
- Research article Clinical review: Anogenital distance or digit length ratio as measures of fetal androgen exposure: relationship to male reproductive development and its disorders [8]
- Research article Clinical practice guidelines for the care of girls and women with Turner syndrome [9]
- Research article Genetics of primary ovarian insufficiency [10]
References
- Sharpe RM. Androgens and the masculinization programming window: human-rodent differences. . 2020. PMID 32779695 · DOI · PMC7458408
- Rodprasert W, Toppari J, Virtanen HE. Endocrine Disrupting Chemicals and Reproductive Health in Boys and Men. . 2021. PMID 34690925 · DOI · PMC8530230
- Gonen N, Eozenou C, Mitter R, Elzaiat M, Stévant I, Aviram R, et al.. In vitro cellular reprogramming to model gonad development and its disorders. . 2023. PMID 36598988 · DOI · PMC9812383
- Oktay MA, Döğer E, Uğurlu AK, Kayhan G, Karaoğuz MY, Çamurdan MO, et al.. Growth hormone therapy and near-final height in SHOX deficiency and turner syndrome: a real-world single-center retrospective cohort study. . 2026. PMID 42243538 · DOI · PMC13236830
- Gravholt CH, Andersen NH, Conway GS, Dekkers OM, Geffner ME, Klein KO, et al.. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017. PMID 28705803 · DOI
- Sybert VP, McCauley E. Turner's syndrome. N Engl J Med. 2004. PMID 15371580 · DOI
- Gravholt CH, Viuff MH, Brun S, Stochholm K, Andersen NH. Turner syndrome: mechanisms and management. Nat Rev Endocrinol. 2019. PMID 31213699 · DOI
- Dean A, Sharpe RM. Clinical review: Anogenital distance or digit length ratio as measures of fetal androgen exposure: relationship to male reproductive development and its disorders. J Clin Endocrinol Metab. 2013. PMID 23569219 · DOI
- Gravholt CH, Andersen NH, Christin-Maitre S, Davis SM, Duijnhouwer A, Gawlik A, et al.. Clinical practice guidelines for the care of girls and women with Turner syndrome. Eur J Endocrinol. 2024. PMID 38748847 · DOI · PMC11759048
- Rossetti R, Ferrari I, Bonomi M, Persani L. Genetics of primary ovarian insufficiency. Clin Genet. 2017. PMID 27861765 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.