AMELY

Summary

AMELY (amelogenin Y-linked, HGNC:462) is a protein-coding gene on chromosome Yp11.2, encoding Amelogenin, Y isoform (Q99218). Plays a role in biomineralization.

This gene encodes a member of the amelogenin family of extracellular matrix proteins. Amelogenins are involved in biomineralization during tooth enamel development. Mutations in a related gene on chromosome X cause X-linked amelogenesis imperfecta.

Source: NCBI Gene 266 — RefSeq curated summary.

At a glance

• Clinical variants (ClinVar): 66 total — 42 pathogenic
• MANE Select transcript: NM_001143
• Notable: 66 clinical variants but no curated precision-oncology (CIViC) evidence yet

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:462
Approved symbol	AMELY
Name	amelogenin Y-linked
Location	Yp11.2
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000099721
Ensembl biotype	protein_coding
OMIM	410000
Entrez	266

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

MANE Select: ENST00000651267

Transcript support level (Ensembl TSL; 1 = fully mRNA-supported): TSL 5: 1

ENST00000651267, ENST00000383036

RefSeq mRNA: 2 — MANE Select: NM_001143 NM_001143, NM_001364814

CCDS: CCDS14778, CCDS94708

Canonical transcript exons

ENST00000651267 — 7 exons

Exon	Start	End
ENSE00000652250	6868732	6868776
ENSE00001494454	6865918	6866078
ENSE00001645681	6870006	6870053
ENSE00001667251	6868037	6868462
ENSE00001671586	6872555	6872620
ENSE00003842130	6873972	6874071
ENSE00003845700	6911673	6911752

Expression profiles

Bgee: expression breadth broad, 20 present calls, max score 83.18.

Highest expression (Bgee): male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, triceps brachii, gluteal muscle, heart right ventricle.

Top tissues by expression

showing 100 of 250 tissues by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.18	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.11	gold quality
triceps brachii	UBERON:0001509	76.55	gold quality
gluteal muscle	UBERON:0002000	76.24	gold quality
heart right ventricle	UBERON:0002080	68.10	gold quality
pancreatic ductal cell	CL:0002079	65.97	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	63.82	gold quality
orbitofrontal cortex	UBERON:0004167	61.13	gold quality
Brodmann (1909) area 46	UBERON:0006483	60.55	gold quality
tibialis anterior	UBERON:0001385	60.20	silver quality
biceps brachii	UBERON:0001507	59.83	gold quality
nasal cavity epithelium	UBERON:0005384	58.74	gold quality
deltoid	UBERON:0001476	58.06	gold quality
inferior olivary complex	UBERON:0002127	57.34	gold quality
endothelial cell	CL:0000115	56.87	gold quality
decidua	UBERON:0002450	56.55	gold quality
jejunal mucosa	UBERON:0000399	55.71	gold quality
quadriceps femoris	UBERON:0001377	55.14	gold quality
myocardium	UBERON:0002349	54.65	gold quality
colonic mucosa	UBERON:0000317	54.18	gold quality
vastus lateralis	UBERON:0001379	54.03	gold quality
cranial nerve II	UBERON:0000941	53.18	silver quality
mucosa of sigmoid colon	UBERON:0004993	53.00	gold quality
ileal mucosa	UBERON:0000331	52.90	silver quality
hair follicle	UBERON:0002073	52.43	gold quality
epithelial cell of pancreas	CL:0000083	52.23	gold quality
skeletal muscle tissue	UBERON:0001134	51.95	gold quality
upper leg skin	UBERON:0004262	51.68	silver quality
seminal vesicle	UBERON:0000998	51.65	gold quality
muscle tissue	UBERON:0002385	50.83	gold quality
corpus epididymis	UBERON:0004359	50.67	gold quality
caput epididymis	UBERON:0004358	49.58	gold quality
cauda epididymis	UBERON:0004360	49.56	gold quality
sural nerve	UBERON:0015488	49.55	silver quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
pigmented layer of retina	UBERON:0001782	49.06	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality
jejunum	UBERON:0002115	48.64	gold quality
cardiac muscle of right atrium	UBERON:0003379	48.55	gold quality
CA1 field of hippocampus	UBERON:0003881	48.50	gold quality
mammalian vulva	UBERON:0000997	48.26	gold quality
left ventricle myocardium	UBERON:0006566	48.24	gold quality
upper arm skin	UBERON:0004263	48.06	gold quality
cervix epithelium	UBERON:0004801	48.04	gold quality
oviduct epithelium	UBERON:0004804	48.00	gold quality
tongue squamous epithelium	UBERON:0006919	47.92	gold quality
mucosa of urinary bladder	UBERON:0001259	47.80	gold quality
thymus	UBERON:0002370	47.42	gold quality
periodontal ligament	UBERON:0008266	47.14	gold quality
diaphragm	UBERON:0001103	47.05	gold quality
kidney epithelium	UBERON:0004819	47.02	gold quality
renal glomerulus	UBERON:0000074	46.99	gold quality
metanephric glomerulus	UBERON:0004736	46.96	gold quality
nephron tubule	UBERON:0001231	46.88	gold quality
layer of synovial tissue	UBERON:0007616	45.76	gold quality
palpebral conjunctiva	UBERON:0001812	44.31	gold quality
entorhinal cortex	UBERON:0002728	43.78	gold quality
placenta	UBERON:0001987	43.66	silver quality
epithelium of bronchus	UBERON:0002031	43.42	gold quality
squamous epithelium	UBERON:0006914	43.42	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	43.37	gold quality
bronchus	UBERON:0002185	43.28	gold quality
cartilage tissue	UBERON:0002418	43.21	gold quality
epithelium of esophagus	UBERON:0001976	42.87	gold quality
secondary oocyte	CL:0000655	42.57	gold quality
Brodmann (1909) area 23	UBERON:0013554	42.02	gold quality
superficial temporal artery	UBERON:0001614	41.33	gold quality
epithelium of mammary gland	UBERON:0003244	41.33	gold quality
parotid gland	UBERON:0001831	41.05	gold quality
ventricular zone	UBERON:0003053	41.05	gold quality
trachea	UBERON:0003126	41.02	gold quality
mucosa of paranasal sinus	UBERON:0005030	40.98	gold quality
tibia	UBERON:0000979	40.82	gold quality
amniotic fluid	UBERON:0000173	40.69	gold quality
dorsal plus ventral thalamus	UBERON:0001897	40.56	gold quality
epithelium of nasopharynx	UBERON:0001951	40.45	gold quality
gingival epithelium	UBERON:0001949	40.43	gold quality
bronchial epithelial cell	CL:0002328	40.34	gold quality
germinal epithelium of ovary	UBERON:0001304	40.33	gold quality
oral cavity	UBERON:0000167	40.29	gold quality
esophagus squamous epithelium	UBERON:0006920	40.29	gold quality
tongue	UBERON:0001723	40.09	gold quality
pleura	UBERON:0000977	40.03	gold quality
mammary duct	UBERON:0001765	39.98	gold quality
saphenous vein	UBERON:0007318	39.83	gold quality
oocyte	CL:0000023	39.80	gold quality
urethra	UBERON:0000057	39.80	gold quality
pericardium	UBERON:0002407	39.77	gold quality
male germ cell	CL:0000015	39.75	gold quality
bone marrow cell	CL:0002092	39.74	gold quality
nasal cavity mucosa	UBERON:0001826	39.71	gold quality
synovial joint	UBERON:0002217	39.70	gold quality
dorsal root ganglion	UBERON:0000044	39.68	gold quality
nipple	UBERON:0002030	39.68	gold quality
penis	UBERON:0000989	39.64	gold quality
gingiva	UBERON:0001828	39.64	gold quality
trigeminal ganglion	UBERON:0001675	39.63	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.35

HPA expression

RNA tissue specificity: Not detected

30 HPA tissues / cells by nTPM:

Tissue / cell	Axis	nTPM
Amygdala	tissue	2.2
Periaqueductal gray	tissue	1.8
Septum	tissue	1.7
Hypothalamus	tissue	1.5
Substantia nigra	tissue	1.4
Ventral pallidum	tissue	1.3
Thalamus	tissue	1.1
Olfactory bulb	tissue	1.1
Basal ganglia	tissue	1.0
Spinal cord	tissue	1.0
Corpus callosum	tissue	1.0
Putamen	tissue	0.9
Midbrain	tissue	0.9
Hippocampal formation	tissue	0.9
Medulla oblongata	tissue	0.8
Prefrontal cortex	tissue	0.7
Cerebral cortex	tissue	0.7
Pons	tissue	0.7
Motor cortex	tissue	0.6
Entorhinal cortex	tissue	0.6
Temporal cortex	tissue	0.6
Insular cortex	tissue	0.6
Cingulate cortex	tissue	0.4
Somatosensory cortex	tissue	0.4
Retrosplenial cortex	tissue	0.4
Superior colliculi	tissue	0.3
Cerebellum	tissue	0.1
Thyroid gland	tissue	0.1
Prostate	tissue	0.1
Occipital cortex	tissue	0.1

Brain sub-regions (HPA Brain Atlas): detected in 8; highest nTPM — Ventral spinal cord (1.0), White matter (1.0), Dorsal spinal cord (0.9), Ventral hippocampus (0.9), Subiculum (0.8).

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): CEBPA, YY1

miRNA regulators (miRDB)

Targeting AMELY by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific).

16 miRNAs:

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-10527-5P	99.91	72.28	3754
HSA-MIR-345-3P	99.89	70.23	1421
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-4639-5P	99.81	67.37	1028
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-3618	99.69	68.57	1012
HSA-MIR-670-5P	99.67	69.94	1565
HSA-MIR-150-3P	99.43	70.51	920
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-5701	98.97	69.54	1502
HSA-MIR-508-3P	98.66	69.62	887
HSA-MIR-934	98.49	70.44	581
HSA-MIR-4421	97.99	64.89	701
HSA-MIR-5699-3P	97.81	65.00	861

Functional genomics

Regional missense constraint (gnomAD RMC): no regional variation along ENST00000651267 — one region, missense o/e 0.77.

Literature-anchored findings (GeneRIF, showing 7)

• Multigene deletions encompassing AMELY on short arm of chromosome Y. (PMID:17189292)
• The combined frequency of the AMELY null allele in Singapore and Malaysia populations is 2.7%, 0.6% in Indian and Malay ethnic groups respectively. It is absent among 541 Chinese screened. (PMID:17588179)
• Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor. (PMID:22669323)
• 252 confirmed and unrelated father/son pairs from the Moroccan population were examined using 17 Y-STR markers of the AmpFISTR Yfiler kit. A total of 15 single repeat mutations between fathers and sons were observed as mutational events. (PMID:23623014)
• demonstrate the presence of copy number variations in regions containing 9 of the 13 CODIS(Combined DNA Index System) short tandem repeat(STR) and AMELX/Y loci (PMID:23948316)
• Finally, since these results are almost completely in accordance with previously published data on B&H and neighboring populations generated by Y-chromosome single nucleotide polymorphism analysis, it can be concluded that in silico analysis of Y-STRs is a reliable method for approximation of the Y-chromosome haplogroup diversity of an examined population. (PMID:28828942)
• Optimization of Method for Human Sex Determination Using Peptidome Analysis of Teeth Enamel from Teeth of Different Biological Generation, Archeological Age, and Degrees of Taphonomic Preservation. (PMID:32571191)

Cross-species orthologs

0 orthologs

Paralogs (1): AMELX (ENSG00000125363)

Additional cross-species homologs

Sequence homologs in species beyond Ensembl Compara’s model organisms, by Diamond local protein alignment (% sequence identity; best hit per species). Lower-identity rows are more distant homologs. The matched accessions’ gene symbols aren’t in biobtree yet, so each row shows the UniProt accession.

Organism	UniProt	Identity	Method
Mus musculus	P63277	100.0%	Diamond
Rattus norvegicus	P63278	100.0%	Diamond
Oryctolagus cuniculus	P12761	94.4%	Diamond
Ornithorhynchus anatinus	O97646	90.9%	Diamond
Tachyglossus aculeatus aculeatus	O97647	90.9%	Diamond
Bos taurus	P02817	89.7%	Diamond
Monodelphis domestica	Q28462	89.7%	Diamond
Pan troglodytes	Q861X8	86.7%	Diamond
Sus scrofa	P45561	86.2%	Diamond
Cavia porcellus	Q9Z0K9	78.3%	Diamond

Genomic neighbors (locus context)

Genes flanking this one on the chromosome (NCBI/Entrez gene neighborhood). Positional context only — some neighbors share regulatory elements (bidirectional promoters, antisense/overlapping transcripts), but chromosomal adjacency is not itself a functional relationship (see Interactions for that).

Symbol	Type	Entrez
TBL1Y	protein-coding	90665
TTTY8B	ncRNA	100101118

Protein

Protein identifiers

Amelogenin, Y isoform — Q99218 (reviewed: Q99218)

All UniProt accessions (1): Q99218

UniProt curated annotations — full annotation on UniProt →

Function. Plays a role in biomineralization. Seems to regulate the formation of crystallites during the secretory stage of tooth enamel development. Thought to play a major role in the structural organization and mineralization of developing enamel.

Subcellular location. Secreted. Extracellular space. Extracellular matrix.

Similarity. Belongs to the amelogenin family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q99218-2	2	yes
Q99218-1	1

RefSeq proteins (2): NP_001134, NP_001351743 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR004116	Amelogenin	Family

Pfam: PF02948

UniProt features (8 total): compositionally biased region 2, sequence conflict 2, signal peptide 1, chain 1, region of interest 1, splice variant 1

Structure

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q99218-F1	57.18	0.00

Human Protein Atlas

Protein class: Predicted secreted proteins

Protein evidence: Evidence at protein level

Function

Pathways and Gene Ontology

Reactome pathways

0 curated (TAS) of 0; 0 disease pathways. Curated-first; evidence = TAS (manually curated) vs IEA (electronic inference).

MSigDB gene sets: 60 (showing top): GOBP_TOOTH_MINERALIZATION, GOBP_ANIMAL_ORGAN_MORPHOGENESIS, GOBP_ENAMEL_MINERALIZATION, GOMF_EXTRACELLULAR_MATRIX_STRUCTURAL_CONSTITUENT, TGCTGAY_UNKNOWN, GOBP_AMELOGENESIS, MODULE_88, MODULE_113, GOBP_ODONTOGENESIS_OF_DENTIN_CONTAINING_TOOTH, MODULE_400, PITX2_Q2, MODULE_112, MCCABE_HOXC6_TARGETS_UP, GOBP_ODONTOGENESIS, MODULE_55

GO Biological Process (3): enamel mineralization (GO:0070166), multicellular organism development (GO:0007275), biomineral tissue development (GO:0031214)

GO Molecular Function (2): structural constituent of tooth enamel (GO:0030345), protein binding (GO:0005515)

GO Cellular Component (1): extracellular matrix (GO:0031012)

GO top-level categories

9 GO namespaces:

Category	Terms
tooth mineralization	1
amelogenesis	1
multicellular organismal process	1
anatomical structure development	1
tissue development	1
animal organ development	1
extracellular matrix structural constituent conferring compression resistance	1
binding	1
external encapsulating structure	1

Experimentally-supported GO annotations

GO terms backed by direct experimental evidence (ECO experimental codes) — 1 of 6 annotations. The rest are phylogenetic / computational / electronic (IEA).

1 experimentally-supported GO terms:

GO term	NS	Evidence
structural constituent of tooth enamel	MF	direct assay

Protein interactions and networks

STRING

showing 15 of 490 interactions by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AMELY	TSPY1	P09002	968
AMELY	O15348	O15348	965
AMELY	TBL1Y	Q9BQ87	938
AMELY	A0A087WUC5	A0A087WUC5	937
AMELY	PRKX	P51817	846
AMELY	PCDH11X	Q9BZA7	846
AMELY	OSTC	Q9NRP0	758
AMELY	ZFY	P08048	741
AMELY	SRY	Q05066	732
AMELY	ENAM	Q9NRM1	671
AMELY	USP9Y	O00507	654
AMELY	UTY	O14607	630
AMELY	TMSB4Y	O14604	573
AMELY	RPS4Y1	P22090	572
AMELY	DDX3Y	O15523	571

IntAct

BioGRID (1 interactions; top human partners by supporting records): HIBADH (Two-hybrid)

Disease & clinical

Genetic variants

Variant evidence for AMELY: 66 ClinVar records (42 pathogenic / likely pathogenic). Per-variant detail is on Sugi Variant.

ClinVar

66 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	42
Likely pathogenic	0
Uncertain significance	9
Likely benign	12
Benign	0

Top pathogenic / likely-pathogenic (15)

Showing the 15 best-reviewed of 42 pathogenic / likely-pathogenic ClinVar records, ranked by ClinVar review status (expert panel → multiple submitters → single submitter), then by number of submitting labs.

Variant ID	HGVS	Classification	Review	Submitters
57173	GRCh38/hg38 Yp11.2-q11.223(chrY:2788370-20525326)x2	Pathogenic	criteria provided, single submitter	1
57270	GRCh38/hg38 Yp11.2-q11.223(chrY:2786811-22358529)x2	Pathogenic	criteria provided, single submitter	1
57321	GRCh38/hg38 Yp11.2(chrY:2786811-9007152)x2	Pathogenic	criteria provided, single submitter	1
58764	GRCh38/hg38 Yp11.2-q12(chrY:2783624-26637948)x2	Pathogenic	criteria provided, single submitter	1
58793	GRCh38/hg38 Yp11.2-q11.221(chrY:2783624-13011793)x2	Pathogenic	criteria provided, single submitter	1
58798	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26463830)x2	Pathogenic	criteria provided, single submitter	1
58799	GRCh38/hg38 Yp11.2-q11.23(chrY:2786811-26483746)x2	Pathogenic	criteria provided, single submitter	1
60442	GRCh38/hg38 Yp11.2-q11.223(chrY:2787210-22302412)x2	Pathogenic	criteria provided, single submitter	1
60444	GRCh38/hg38 Yp11.2-q11.23(chrY:6478684-26574618)x2	Pathogenic	criteria provided, single submitter	1
253428	GRCh37/hg19 Yp11.32-q12(chrY:20297-59358845)x2	Pathogenic	criteria provided, single submitter	1
253481	GRCh37/hg19 Yp11.32-q12(chrY:126426-59349649)x2	Pathogenic	criteria provided, single submitter	1
253518	GRCh37/hg19 Yp11.32-q12(chrY:21267-59349649)x2	Pathogenic	criteria provided, single submitter	1
253542	GRCh37/hg19 Yp11.32-q12(chrY:21267-59337042)x2	Pathogenic	criteria provided, single submitter	1
253556	GRCh37/hg19 Yp11.32-q11.221(chrY:100002-15906224)x2	Pathogenic	criteria provided, single submitter	1
253609	GRCh37/hg19 Yp11.32-q12(chrY:126426-59353228)x2	Pathogenic	criteria provided, single submitter	1

Per-variant reference — Sugi Variant

Explore AMELY’s pathogenic and likely-pathogenic variants individually — each with its ClinVar classification and conditions, applied ACMG criteria (ClinGen expert panel, where curated), the calibrated in-silico predictors (AlphaMissense, REVEL, SaProt, conservation), gnomAD frequency, and the predictor-disagreement QC signal — on Sugi Variant.

SpliceAI

Top 10 splice-impact sites by Δscore (adjacent positions with the same effect merged into one range; 25 predictions of 672):

Position(s)	Effect	Δscore	Sites
Y:6870057	acceptor_gain	0.9900
Y:6874091	acceptor_gain	0.9900
Y:6870055	acceptor_gain	0.9700
Y:6870059	acceptor_gain	0.9600
Y:6872550	donor_loss	0.9600	2
Y:6872553–6872554	donor_loss	0.9600	5
Y:6872550–6872553	donor_loss	0.9500	3
Y:6868035–6868036	donor_loss	0.9300	5
Y:6870054–6870055	acceptor_loss	0.9300	5
Y:6872549	donor_loss	0.9300

HPA cancer prognostics

RNA cancer specificity: Not detected

Disease associations

OMIM: gene MIM:410000 | disease phenotypes:

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (CPIC guideline: no)

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
arsenite	decreases methylation	1
CGP 52608	increases reaction, affects binding	1
Benzo(a)pyrene	affects methylation	1
Lactic Acid	decreases expression	1

Clinical trials (associated diseases)

Via MONDO — disease-level, not drug-specific.

showing 60 of 169 trials:

NCT	Phase	Status	Title
NCT02408445	Phase 4	COMPLETED	Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
NCT03325647	Phase 4	COMPLETED	TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY
NCT05498090	Phase 4	UNKNOWN	Interrogating Fatty Acid Metabolism Impairment and Clinical Correlates in Males with Klinefelter Syndrome
NCT06294990	Phase 4	RECRUITING	Klinefelter Syndrome and Testosterone Treatment in Puberty
NCT02202382	Phase 4	COMPLETED	Effects of Korean Red Ginseng on Male Infertility
NCT02204826	Phase 4	COMPLETED	Effects of Korean Red Ginseng on Semen Parameters in Male Infertility Patients: a Randomized, Placebo-controlled, Double-blind Clinical Study
NCT03802864	Phase 4	COMPLETED	Post-operative Pain Control of Testicular Sperm Extraction Using Liposomal Bupivacaine
NCT06100432	Phase 4	ACTIVE_NOT_RECRUITING	Effect of Eurycoma Longifolia (DLBS5055) and Multivitamins (Vitamin C+Vitamin E+ β-carotene) for Infertile Males
NCT07523022	Phase 4	ENROLLING_BY_INVITATION	Comparison of the Effect of Gonadotropin and Clomiphene Citrate Treatment on Sperm Parameters and the Outcome of Assisted Reproductive Procedures in Subfertile Men Based on the APHRODITE Groups
NCT05586802	Phase 3	RECRUITING	Sex Steroids Balance for Metabolic and Reproductive Health in Klinefelter Syndrome
NCT00975117	Phase 3	COMPLETED	Spermotrend in the Treatment of Male Infertility
NCT01407432	Phase 3	COMPLETED	Impact of Folates in the Care of the Male Infertility
NCT01895816	Phase 3	COMPLETED	Herbal Tonic Fertile Supplement(ZO2C5)
NCT02605070	Phase 3	TERMINATED	Pilot Study on the Effects of FSH Treatment on the Epigenetic Characteristics of Spermatozoa in Infertile Patients With Severe Oligozoospermia
NCT07402759	Phase 3	ACTIVE_NOT_RECRUITING	Impact of tdrd9 Gene Mutations in the Therapeutic Response to L-carnitine in Oligoasthenozoospermic Men
NCT00348946	Phase 2	COMPLETED	Androgen Effect on Klinefelter Syndrome Motor Outcome
NCT02061384	Phase 2	COMPLETED	RA-2 13-cis Retinoic Acid (Isotretinoin)
NCT01880086	Phase 2	COMPLETED	Clomiphene Citrate for the Treatment of Low Testosterone Associated With Chronic Opioid Pain Medication Administration
NCT02421887	Phase 2	COMPLETED	Males, Antioxidants, and Infertility Trial
NCT05200663	Phase 2	UNKNOWN	Efficacy Comparison of Tamoxifen and Tamoxifen With Antioxidants on Semen Quality of Male With Idiopathic Infertility
NCT05290558	Phase 2	ACTIVE_NOT_RECRUITING	The Therapeutic Effects of Bu Shen Yi Jing Pill on Semen Quality in Sub Fertile Males: a Randomized Controlled Trial
NCT06091969	Phase 2	NOT_YET_RECRUITING	Supplementation for Male Subfertility
NCT01595308	Phase 1	COMPLETED	A Pilot Study to Evaluate the Effect of Pomegranate Juice on Semen Parameters in Healthy Male Volunteers
NCT02122211	Phase 1	COMPLETED	Choline Dehydrogenase and Sperm Function: Effects of Betaine
NCT02575924	Phase 1	UNKNOWN	Influence of Culture Media on Clinical Outcomes in Poor Responders or Severe Male Infertility
NCT01206270	Phase 2/3	COMPLETED	Androgen for Leydig Cell Proliferation
NCT00347464	Not specified	WITHDRAWN	Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
NCT00523835	Not specified	COMPLETED	Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
NCT00891852	Not specified	UNKNOWN	Non-Invasive Determination of Fetal Chromosome Abnormalities
NCT00896272	Not specified	COMPLETED	Adaptation Among Adolescents and Adults With Klinefelter Syndrome
NCT00999310	Not specified	COMPLETED	Neuropsychologic, Neuroradiologic, Endocrinologic, and Genetic Aspects of Klinefelter Syndrome
NCT01585831	Not specified	COMPLETED	Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome
NCT01678261	Not specified	COMPLETED	X-chromosome Inactivation, Epigenetics and the Transcriptome
NCT01690013	Not specified	COMPLETED	Life Quality and Health in Patients With Klinefelter Syndrome
NCT01750632	Not specified	COMPLETED	Subcapsular Orchiectomy in Men With Klinefelter Syndrome
NCT01817296	Not specified	COMPLETED	Klinefelter Fertility Preservation
NCT01918280	Not specified	COMPLETED	Fertility Preservation in Cases of Klinefelter Syndrome.
NCT02414295	Not specified	COMPLETED	Sperm Production in Kleinfelter Syndrome Patients After Mesenchymal Stem Cell Injection
NCT02430584	Not specified	UNKNOWN	Whole Blood Specimen Collection From Pregnant Subjects
NCT02461303	Not specified	TERMINATED	Fertility Assessment in Patients With Klinefelter Syndrome
NCT02526628	Not specified	COMPLETED	Thrombosis and Neurocognition in Klinefelter Syndrome
NCT02723305	Not specified	COMPLETED	Cardiometabolic Profiles of Boys With Klinefelter Syndrome
NCT02787486	Not specified	COMPLETED	Expanded Noninvasive Genomic Medical Assessment: The Enigma Study
NCT02788136	Not specified	COMPLETED	Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome
NCT03396562	Not specified	RECRUITING	The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy
NCT03836300	Not specified	ENROLLING_BY_INVITATION	Parent and Infant Inter(X)Action Intervention (PIXI)
NCT04252001	Not specified	NOT_YET_RECRUITING	Growing up With the Young Endocrine Support System (YESS!)
NCT04803474	Not specified	UNKNOWN	Turner And Klinefelter Treatment Target Study
NCT05014997	Not specified	COMPLETED	TyG Index Levels in Klinefelter Syndrome
NCT05425953	Not specified	UNKNOWN	Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
NCT05581147	Not specified	RECRUITING	Thyroid Function and Structure in Klinefelter Syndrome
NCT05997706	Not specified	UNKNOWN	Unraveling the Klinefelter’s Disease Physiopathology
NCT06687252	Not specified	COMPLETED	Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
NCT07142135	Not specified	ENROLLING_BY_INVITATION	Long-term Systematic Follow-up of Patients With Klinefelter Syndrome Followed at the Department of Growth and Reproduction, Rigshospitalet
NCT07807540	Not specified	NOT_YET_RECRUITING	Hematological Profile in Children With Numerical Chromosomal Disorders
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NCT05222841	Phase 2/3	COMPLETED	The Effectiveness of Spermotrend Food Supplement in the Treatment of Male Infertility
NCT05616598	Phase 2/3	COMPLETED	Effect of New Oral Treatment for Hepatitis C Virus on Seminal Parameters
NCT07669402	Phase 2/3	COMPLETED	Comparative Evaluation of the Efficacy of Letrozole, L-Carnitine, and Their Combination on Sperm Quality, Oxidative Stress, and ART Outcomes in Men With Idiopathic Oligoasthenoteratozoospermia.