Klinische FragestellungHodenhochstand, Differentialdiagnose

NGS +

• Alias: Ectopic testis
• Alias: Hoden-Dystopie
• Alias: Kryptorchismus
• Alias: Nondescensus testis
• Alias: Undescended testis
• Allelic: 46XX sex reversal 1 (SRY)
• Allelic: 46XX sex reversal 4 (NR5A1)
• Allelic: Luteinizing hormone resistance, female (LHCGR)
• Allelic: Mullerian aplasia + hyperandrogenism (WNT4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Precocious puberty, male (LHCGR)
• Allelic: Premature ovarian failure 7 (NR5A1)
• Allelic: Prostate cancer, susceptibility to (AR)
• Allelic: Retentio testis
• 46XY disorder of sex development [MONDO:0020040] (ESR2)
• 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
• 46XY sex reversal 1 (SRY)
• 46XY sex reversal 11 (DHX37)
• 46XY sex reversal 2, dosage-sensitive (NR0B1)
• 46XY sex reversal 3 (NR5A1)
• 46XY sex reversal 5 (CBX2)
• 46XY sex reversal 6 (MAP3K1)
• 46XY sex reversal 7 (DHH)
• 46XY sex reversal 9 (ZFPM2)
• Acampomelic campomelic dysplasia (SOX9)
• Adrenal hypoplasia, congenital (NR0B1)
• Adrenocortical insufficiency (NR5A1)
• Alpha-thalassemia/mental retardation syndrome (ATRX)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Apert syndrome (FGFR2)
• Atrial septal defect 2 (GATA4)
• Atrioventricular septal defect 4 (GATA4)
• Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Bent bone dysplasia syndrome (FGFR2)
• Brachydactyly, type D (HOXD13)
• Brachydactyly, type E (HOXD13)
• Brachydactyly-syndactyly syndrome (HOXD13)
• CHARGE syndrome (CHD7)
• Campomelic dysplasia (SOX9)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Cardiomyopathy, dilated, 1S (MYH7)
• Cardiomyopathy, hypertrophic, 1 (MYH7)
• Caudal duplication anomaly (AXIN1)
• Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Craniosynostosis, nonspecific (FGFR2)
• Crouzon syndrome (FGFR2)
• Cryptorchidism (INSL3)
• Cryptorchidism, familial bilateral [LIT.] (RXFP2)
• Cryptorchidism, nonsyndromic; association [LIT.] (TGFBR3)
• Denys-Drash syndrome (WT1)
• Developmental + epileptic encephalopathy 1 (ARX)
• Diaphragmatic hernia 3 (ZFPM2)
• Disorder of sex development [panelapp] (DMRT1)
• Frasier syndrome (WT1)
• Hartsfield syndrome (FGFR1)
• Hydranencephaly with abnormal genitalia (ARX)
• Hypogonadotropic hypogonadism 1 with/-out anosmia, Kallmann syndrome 1 (ANOS1)
• Hypogonadotropic hypogonadism 10 with/-out anosmia (TAC3)
• Hypogonadotropic hypogonadism 11 with/-out anosmia (TACR3)
• Hypogonadotropic hypogonadism 2 with/-out anosmia (FGFR1)
• Hypogonadotropic hypogonadism 3 with/-out anosmia (PROKR2)
• Hypogonadotropic hypogonadism 4 with/-out anosmia (PROK2)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypogonadotropic hypogonadism 7 without anosmia (GNHRH)
• Hypospadias 1, XL (AR)
• Intellectual developmental disorder, XL 29 (ARX)
• Jackson-Weiss syndrome (FGFR1)
• Jackson-Weiss syndrome (FGFR2)
• LADD syndrome (FGFR2)
• Laing distal myopathy (MYH7)
• Left ventricular noncompaction 5 (MYH7)
• Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Lissencephaly, XL 2 (ARX)
• Meacham syndrome (WT1)
• Mental retardation-hypotonic facies syndrome, XL (ATRX)
• Myopathy, myosin storage, AD or AR (MYH7)
• Neurodevelopmental disorder with brain anomalies with/-out vertebral or cardiac anomalies (DHX37)
• Nivelon-Nivelon-Mabille syndrome (HHAT)
• Osteoglophonic dysplasia (FGFR1)
• Partington syndrome (ARX)
• Persistent Mullerian duct syndrome, type I (AMH)
• Persistent Mullerian duct syndrome, type II (AMHR2)
• Pfeiffer syndrome (FGFR1)
• Pfeiffer syndrome (FGFR2)
• Proud syndrome (ARX)
• SERKAL syndrome [46XX SEx Reversal + dysgenesis of Kidney, Adrenals + Lungs] (WNT4)
• Saethre-Chotzen syndrome (FGFR2)
• Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
• Scaphocephaly, maxillary retrusion + mental retardation (FGFR2)
• Scapuloperoneal syndrome, myopathic type (MYH7)
• Schizencephaly (EMX2)
• Spermatogenic failure 8 (NR5A1)
• Spinal + bulbar muscular atrophy of Kennedy (AR)
• Sudden infant death with dysgenesis of the testes syndrome (TSPYL1)
• Syndactyly, type V (HOXD13)
• Synpolydactyly 1 (HOXD13)
• Testicular anomalies with/-out congenital heart disease (GATA4)
• Tetralogy of Fallot (GATA4)
• Tetralogy of Fallot (ZFPM2)
• Trigonocephaly (FGFR1)
• Ventricular septal defect 1 (GATA4)
• Wilms tumor, type 1 (WT1)