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46,XY partial gonadal dysgenesis
5 OMIM references -
7 associated genes
231 connected diseases
9 signs/symptoms
Disease Type of connection
46,XY complete gonadal dysgenesis
Tetralogy of Fallot
Atrial septal defect, ostium secundum type
Familial atrial fibrillation
Single ventricular septal defect
46,XX gonadal dysgenesis
Cytomegalic congenital adrenal hypoplasia
46,XX ovotesticular disorder of sex development
46,XX testicular disorder of sex development
8p23.1 microdeletion syndrome
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Partial atrioventricular canal
45,X / 46,XY mixed gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Denys-Drash syndrome
Desmoplastic small round cell tumor
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Frasier syndrome
Meacham syndrome
Nephroblastoma
Sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Testicular regression syndrome
WAGR syndrome
Giant cell glioblastoma
Gliosarcoma
Familial pancreatic carcinoma
Amyotrophic lateral sclerosis
Retinitis pigmentosa
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Complete androgen insensitivity syndrome
Familial hypospadias
Kennedy disease
Partial androgen insensitivity syndrome
Distal 22q11.2 microdeletion syndrome
Mitochondrial trifunctional protein deficiency
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Craniopharyngioma
Cardiofaciocutaneous syndrome
LEOPARD syndrome
Noonan syndrome
Pilocytic astrocytoma
Autosomal dominant nonsyndromic intellectual deficit
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Translocation renal cell carcinoma
Acute fatty liver of pregnancy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
17q11 microdeletion syndrome
Coffin-Siris syndrome
Dedifferentiated liposarcoma
Frontotemporal dementia with motor neuron disease
Hereditary breast and ovarian cancer syndrome
Lethal acantholytic epidermolysis bullosa
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Richieri Costa-Pereira syndrome
Weaver syndrome
Well-differentiated liposarcoma
Familial isolated dilated cardiomyopathy
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Acute promyelocytic leukemia
ADULT syndrome
Ankyloblepharon - ectodermal defects - cleft lip / palate
Bladder exstrophy
EEC syndrome
Limb-mammary syndrome
Split hand-split foot malformation
Estrogen resistance syndrome
Left ventricular noncompaction
Athyreosis
Atrial septal defect - atrioventricular conduction defects
Familial isolated congenital asplenia
Familial progressive cardiac conduction defect
Hypoplastic left heart syndrome
Thyroid hypoplasia
Congenital diaphragmatic hernia
17p13.3 microduplication syndrome
Desmoid tumor
Distal 17p13.3 microdeletion syndrome
Hepatocellular carcinoma, childhood-onset
Miller-Dieker syndrome
Pilomatrixoma
Campomelic dysplasia
Brachydactyly - elbow wrist dysplasia
Familial clubfoot due to 5q31 microdeletion
Familial clubfoot due to PITX1 point mutation
Hairy cell leukemia
Hashimoto-Pritzker syndrome
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Idiopathic hypereosinophilic syndrome
Charcot-Marie-Tooth disease type 1C
Holt-Oram syndrome
Acute infantile liver failure-multisystemic involvement syndrome
Baraitser-Winter syndrome
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Chronic intestinal pseudoobstruction
Congenital fibrosis of extraocular muscles
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Hyperinsulinism-hyperammonemia syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Lissencephaly due to TUBA1A mutation
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Polymicrogyria due to TUBB2B mutation
Primary dystonia, DYT4 type
Pulverulent cataract
SSR4-CDG
Severe X-linked mitochondrial encephalomyopathy
Terminal osseous dysplasia - pigmentary defects
X-linked Charcot-Marie-Tooth disease type 4
Aneurysm - osteoarthritis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Boomerang dysplasia
Spondylocarpotarsal synostosis
ALK-positive anaplastic large cell lymphoma
ALK-positive large B-cell lymphoma
Angelman syndrome
Autosomal agammaglobulinemia
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant macrothrombocytopenia
Autosomal recessive spastic paraplegia type 20
Brody myopathy
Burkitt lymphoma
Cerebellar ataxia-deafness-narcolepsy syndrome
Classic multiminicore myopathy
Congenital communicating hydrocephalus
Craniolenticulosutural dysplasia
Dentatorubral pallidoluysian atrophy
Developmental delay-microcephaly-facial dysmorphism syndrome, Hutterite type
Distal hereditary motor neuropathy type 2
Distal myopathy with vocal cord weakness
Dyskeratosis congenita
Ebstein malformation
Familial isolated hyperparathyroidism
Familial multiple meningioma
Familial parathyroid adenoma
Familial partial lipodystrophy associated with PPARG mutations
Familial prostate cancer
Familial rhabdoid tumor
Frontonasal dysplasia with alopecia and genital anomaly
HSD10 disease, atypical type
HSD10 disease, infantile type
HSD10 disease, neonatal type
Hemolytic anemia due to red cell pyruvate kinase deficiency
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Hoyeraal-Hreidarsson syndrome
Hyaline body myopathy
Idiopathic pulmonary fibrosis
Inflammatory myofibroblastic tumor
Isolated scaphocephaly
Juvenile amyotrophic lateral sclerosis
Kabuki syndrome
Keratosis palmoplantaris striata
Laing distal myopathy
Multiple endocrine neoplasia type 1
Myxofibrosarcoma
Myxoid / round cell liposarcoma
Naxos disease
Neuroblastoma
Opsismodysplasia
Osteogenesis imperfecta type 4
Parietal foramina
Partial chromosome Y deletion
Potocki-Shaffer syndrome
Precursor T-cell acute lymphoblastic leukemia
Primary peritoneal carcinoma
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
SHORT syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 36
Syndromic multisystem autoimmune disease due to Itch deficiency
White sponge nevus
Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
Zollinger-Ellison syndrome
Renal coloboma syndrome
Congenital isolated ACTH deficiency
5q14.3 microdeletion syndrome
Common variable immunodeficiency
Anophthalmia / microphthalmia - esophageal atresia
Berardinelli-Seip congenital lipodystrophy
Colobomatous microphthalmia
Hypohidrotic ectodermal dysplasia with immunodeficiency
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Glucocorticoid resistance
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
- 46,XY PGD
- 46,XY partial testicular dysgenesis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare gynecologic or obstetric disease
- Rare infertility
- Rare urogenital disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: sporadic
External references:
5 OMIM references -
No MeSH references
Very frequent
- Ambiguous genitalia
- Female pseudohermaphrodism / virilisation / clitoridomegaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Mixed gonadal dysgenesis
- Testis anomalies

Occasional
- Cortico-adrenal hypoplasia / insufficiency
- Ovary / Fallopian tube neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)
- Testicular / seminal neoplasm / tumor / carcinoma / cancer (excl. teratoma / germinoma)