Illness46XY - disorders of sexual development, differential diagnosis

NGS +

[Sanger]

illness_ClinicalComment_GP0072

• Alias: 46XY disorder of sex development; 46XY DSD; 46XY sex reversal 1; 46XY sex reversal 1
• Alias: DSD, disorders of sex determination
• Allelic: 46XX sex reversal 1 (SRY)
• Allelic: 46XX sex reversal 4 (NR5A1)
• Allelic: Acampomelic campomelic dysplasia (SOX9)
• Allelic: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
• Allelic: Adrenocortical insufficiency (NR5A1)
• Allelic: Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Allelic: Campomelic dysplasia (SOX9)
• Allelic: Hypospadias 1, XL (AR)
• Allelic: Mesothelioma, somatic (WT1)
• Allelic: Mullerian aplasia + hyperandrogenism (WNT4)
• Allelic: Nephrotic syndrome, type 4 (WT1)
• Allelic: Premature ovarian failure 7 (NR5A1)
• Allelic: Prostate cancer, susceptibility to (AR)
• Allelic: Spermatogenic failure 8 (NR5A1)
• Allelic: Spinal + bulbar muscular atrophy of Kennedy (AR CAG)
• Allelic: Wilms tumor, type 1 (WT1)
• Intellectual disability [panelapp red] (STARD8)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• 46,XY disorder of sex development [MONDO:0020040] (ESR2)
• 46XX sex reversal 5 (NR2F2)
• 46XY partial gonadal dysgenesis, with minifascicular neuropathy (DHH)
• 46XY sex reversal 1 (SRX)
• 46XY sex reversal 11 (DHX37)
• 46XY sex reversal 3 (NR5A1)
• 46XY sex reversal 6 (MAP3K1)
• 46XY sex reversal 7 (DHH)
• Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency (CYP11B1)
• Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial/complete (CYP11A1)
• Allelic: Alpha-thalassemia/mental retardation syndrome (ATRX)
• Allelic: Apert syndrome (FGFR2)
• Allelic: Beare-Stevenson cutis gyrata syndrome (FGFR2)
• Allelic: Congenital heart defects, multiple types, 4 (NR2F2)
• Allelic: Craniofacial-skeletal-dermatologic dysplasia (FGFR2)
• Allelic: Craniosynostosis, nonspecific (FGFR2)
• Allelic: Crouzon syndrome (FGFR2)
• Allelic: Developmental and epileptic encephalopathy 1 (ARX)
• Allelic: Intellectual developmental disorder, XL 29 (ARX)
• Allelic: Jackson-Weiss syndrome (FGFR2)
• Allelic: Lissencephaly, XL 2 (ARX)
• Allelic: Mullerian aplasia and hyperandrogenism (WNT4)
• Allelic: Ovarian dysgenesis 2 (BMP15)
• Allelic: Ovarian dysgenesis 6 (NUP107)
• Allelic: Ovarian dysgenesis 8 (ESR2)
• Allelic: Partington syndrome (ARX)
• Allelic: Pfeiffer syndrome (FGFR2)
• Allelic: Premature ovarian failure 3 (FOXL2)
• Allelic: Premature ovarian failure 4 (BMP15)
• Allelic: Saethre-Chotzen syndrome (FGFR2)
• Allelic: Scaphocephaly and Axenfeld-Rieger anomaly (FGFR2)
• Allelic: Scaphocephaly, maxillary retrusion + impaired intellectual development (FGFR2)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis (FGFR2)
• Bent bone dysplasia syndrome (FGFR2)
• Blepharophimosis, epicanthus inversus, ptosis, type 1 (FOXL2)
• Blepharophimosis, epicanthus inversus, ptosis, type 2 (FOXL2)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Denys-Drash syndrome (WT1)
• Developmental and epileptic encephalopathy 28 (WWOX)
• Frasier syndrome (WT1)
• Galloway-Mowat syndrome 7 (NUP107)
• Hydranencephaly with abnormal genitalia (ARX)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• IMAGE syndrome (CDKN1C)
• Intellectual disability-hypotonic facies syndrome, XL (ATRX)
• LADD syndrome 1 (FGFR2)
• Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
• Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• MIRAGE syndrome (SAMD9)
• Meacham syndrome (WT1)
• Mullerian aplasia and hyperandrogenism
• Multiple synostoses syndrome 3 (FGF9)
• Nephrotic syndrome, type 11 (NUP107)
• Nephrotic syndrome, type 14 (SGPL1)
• Neurodevelopmental disorder with brain anomalies +/- vertebral/cardiac anomalies (DHX37)
• Nivelon-Nivelon-Mabille syndrome (HHAT)
• PCWH syndrome (SOX10)
• Persistent Mullerian duct syndrome, type I (AMH)
• Persistent Mullerian duct syndrome, type II (AMHR2)
• Precocious puberty, male (LHCGR)
• Proud syndrome (ARX)
• Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
• Pseudovaginal perineoscrotal hypospadias (SRD5A2)
• SERKAL syndrome (WNT4)
• Schizencephaly (EMX2)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Spinocerebellar ataxia, AR 12 (WWOX)
• Waardenburg syndrome, type 2E, +/- neurologic involvement (SOX10)
• Waardenburg syndrome, type 4C (SOX10)