Disease · MONDO_0006823

Klinefelter syndrome

6 sourcesdiseases-2026-09-18-0.1.0

Cite this record

ConductScience Library. Klinefelter syndrome. Diseases, record MONDO_0006823. Release diseases-2026-09-18-0.1.0, 18 Sept 2026. https://conductscience.org/library/diseases/MONDO_0006823

On this page

Disease

Names and IDs as Open Targets gives them. Its IDs in MeSH, Orphanet, the Disease Ontology and the NCI Thesaurus are those Open Targets states for it.

Name: Klinefelter syndrome; Open Targets
Open Targets ID: MONDO_0006823; Open Targets
Other names: 47,XXY syndrome, Hypogonadotropic Hypogonadism, Klinefelter's syndrome, Klinefelter's syndrome, XXY, XXY syndrome, XXY syndrome (Klinefelter syndrome), XXY trisomy; Open Targets
Disease Ontology: DOID:1921; Disease Ontology
MeSH: D007713; MeSH
NCI Thesaurus: C34752; NCI Thesaurus
Highest stage of its drugs: Approval, for 2 of its 8 drugs, from DailyMed; Open Targets

Drugs8

The drugs Open Targets' clinical reports study for the disease, the highest stage first, then the most trial reports. The stage is Open Targets', the highest any of its sources reports for the pair, and each row names the sources that report it.

Drug	ChEMBL ID	Type	Open Targets' stage	Stage reported by	Reports	Of them trials	Trials shown here	Source
TESTOSTERONE	CHEMBL386630	Small molecule	Approval	DailyMed	8	3	3	Drugs and targets
TESTOSTERONE UNDECANOATE	CHEMBL2107067	Small molecule	Approval	DailyMed	1	0	0	Drugs and targets
GONADOTROPIN, CHORIONIC	CHEMBL1201509	Protein	Phase 3	ClinicalTrials.gov	3	3	2	Drugs and targets
CHORIOGONADOTROPIN ALFA	CHEMBL1201464	Protein	Phase 3	ClinicalTrials.gov	2	2	0	Drugs and targets
CORIFOLLITROPIN ALFA	CHEMBL2108185	Protein	Phase 3	ClinicalTrials.gov	2	2	2	Drugs and targets
ANASTROZOLE	CHEMBL1399	Small molecule	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
SEMAGLUTIDE	CHEMBL2108724	Protein	Phase 3	ClinicalTrials.gov	1	1	1	Drugs and targets
OXANDROLONE	CHEMBL1200436	Small molecule	Phase 2	ClinicalTrials.gov	1	1	1	Drugs and targets

Targets5

The targets ChEMBL's mechanism records give for the disease's drugs, through Open Targets, the most drugs first. A mechanism record says what a drug acts on, not that the target causes the disease.

Target	Protein	Its drugs that act on it	Mechanisms	Highest stage of those drugs	Gene in Genes	Source
AR	Androgen receptor	3	Androgen Receptor agonist	Approval	https://conductscience.org/library/genes/367	Drugs and targets
LHCGR	Lutropin-choriogonadotropic hormone receptor	2	Luteinizing hormone/Choriogonadotropin receptor agonist	Phase 3	https://conductscience.org/library/genes/3973	Drugs and targets
CYP19A1	Aromatase	1	Cytochrome P450 19A1 inhibitor	Phase 3	https://conductscience.org/library/genes/1588	Drugs and targets
FSHR	Follicle-stimulating hormone receptor	1	Follicle stimulating hormone receptor agonist	Phase 3	https://conductscience.org/library/genes/2492	Drugs and targets
GLP1R	Glucagon-like peptide 1 receptor	1	Glucagon-like peptide 1 receptor agonist	Phase 3	https://conductscience.org/library/genes/2740	Drugs and targets

Trials6

Trials an Open Targets clinical report links to the disease, posted results first, then the largest. A trial is shown when the release's checks confirm its link to the disease and Drugs and targets shows its link to one of the disease's drugs.

Trial	Title	Phase	Participants	Results first posted	Conditions	Drugs	Linked by	Source
NCT00348946	Androgen Effect on Klinefelter Syndrome Motor Outcome	Phase 2	93	2021-07-08	Klinefelter Syndrome	OXANDROLONE	Its record names the disease	ClinicalTrials.gov
NCT01585831	Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome	Not applicable	48	2021-08-10	Klinefelter Syndrome, XXY Syndrome	TESTOSTERONE	Its record names the disease	ClinicalTrials.gov
NCT01709331	A Study of the Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adult Men With Hypogonadotropic Hypogonadism (HH) (P07937)	Phase 3	18	2016-05-09	Hypogonadism, Hypogonadotropic Hypogonadism	CORIFOLLITROPIN ALFA, GONADOTROPIN, CHORIONIC	Its record names the disease	ClinicalTrials.gov
NCT03019575	Efficacy and Safety of Corifollitropin Alfa (MK-8962) in Combination With Human Chorionic Gonadotropin (hCG) in Adolescent Males With Hypogonadotropic Hypogonadism (HH) (MK-8962-043)	Phase 3	17	2021-04-08	Hypogonadotropic Hypogonadism	CORIFOLLITROPIN ALFA, GONADOTROPIN, CHORIONIC	Its record names the disease	ClinicalTrials.gov
NCT05586802	Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome	Phase 3	150		Klinefelter Syndrome	ANASTROZOLE, SEMAGLUTIDE, TESTOSTERONE	Its record names the disease	ClinicalTrials.gov
NCT06294990	Klinefelter Syndrome and Testosterone Treatment in Puberty	Phase 4	32		Klinefelter Syndrome	TESTOSTERONE	Its record names the disease	ClinicalTrials.gov

Comparisons in its trials4

Comparisons Trial comparisons calculated in the trials shown here, most participants first. A comparison in one of these trials does not always compare a treatment for the disease, so read the two groups.

Comparison	Group 1, with the outcome	Group 2, with the outcome	Participants	Trial	Source
Oxandrolone vs Placebo: deaths from any cause	0 of 46	0 of 47	93	NCT00348946	Trial comparisons
Oxandrolone vs Placebo: serious adverse events	0 of 46	0 of 47	93	NCT00348946	Trial comparisons
Testosterone Gel 1% vs Placebo Gel: deaths from any cause	0 of 28	0 of 20	48	NCT01585831	Trial comparisons
Testosterone Gel 1% vs Placebo Gel: serious adverse events	0 of 28	0 of 20	48	NCT01585831	Trial comparisons

Papers from its trials6

The papers the trials shown here list on ClinicalTrials.gov as their results (RESULT) or as drawn from them (DERIVED), results first, newest first.

PMID	Listed as	Trials listing it	Source
28270212	RESULT	1	PubMed
40090688	DERIVED	1	PubMed
32542985	DERIVED	1	PubMed
29931143	DERIVED	1	PubMed
28285751	DERIVED	1	PubMed
27637014	DERIVED	1	PubMed

Data dates

The date of each source this release read.

Open Targets: 2026-09-18; Open Targets
Drug links and their checks, from Drugs and targets: 2026-09-18; Drugs and targets
ClinicalTrials.gov, from Trials: 2026-11-12; Trials
Comparisons, from Trial comparisons: 2026-03-23; Trial comparisons
PubMed, for the checks: 2026-11-06; PubMed
MeSH, for the checks: 2026-11-10; MeSH

Sources 6

ClinicalTrials.gov's posted results, through CTTI's AACTFreely available. Acknowledgement requested
ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
NLM's MeSHNLM's terms
Open TargetsCC0 1.0
PubMedNLM's terms

Each source's terms

ClinicalTrials.gov's posted results, through CTTI's AACTClinicalTrials.gov data via Aggregate Analysis of ClinicalTrials.gov (AACT), CTTI. CTTI makes its materials freely available and requests acknowledgement. https://aact.ctti-clinicaltrials.org/documentation/299
ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
NLM's MeSHNLM's
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PubMedNLM's terms

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

For software

Read this disease from software.

The record and each of its lists are JSON, twenty rows a page. No key.

GET https://conductscience.org/api/diseases/v1/MONDO_0006823

GET https://conductscience.org/api/diseases/v1/MONDO_0006823/drugs

API reference For AI assistants