Klinische Fragestellung46XX - indifferentes Genitale, Differentialdiagnose

NGS +

[Sanger]

Gruppe von Krankheiten: Mehrdeutige Genitalien, die äusseren Genitalien des Säuglings erscheinen weder eindeutig männlich noch weiblich; Genitalien können unvollständig entwickelt sein oder Merkmale beider Geschlechter aufweisen; die äusseren Geschlechtsorgane stimmen möglicherweise nicht mit den inneren überein oder nicht mit dem Geschlechtschromosomenstatus

• Alias: Genetic 46XX disorder of sex development - DSD; Genetic female pseudohermaphroditism
• Allelic: 46XY sex reversal 1 (SRY)
• Allelic: Acampomelic campomelic dysplasia (SOX9)
• Allelic: Beckwith-Wiedemann syndrome (CDKN1C)
• Allelic: Campomelic dysplasia (SOX9)
• Allelic: D-bifunctional protein deficiency (HSD17B4)
• Allelic: Disordered steroidogenesis due to cytochrome P450 oxidoreductase (POR)
• Allelic: Hydrops, lactic acidosis, and sideroblastic anemia (LARS2)
• Allelic: Leydig cell adenoma, somatic, with precocious puberty (LHCGR)
• Allelic: Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Allelic: Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Allelic: Mental retardation, XL, with isolated growth hormone deficiency (SOX3)
• Allelic: Ovarian hyperstimulation syndrome (FSHR)
• Allelic: Ovarian response to FSH stimulation (FSHR)
• Allelic: Precocious puberty, male (LHCGR)
• Allelic: Spinal and bulbar muscular atrophy of Kennedy (AR)
• Allelic: Testicular anomalies with or without congenital heart disease (GATA4)
• Allelic: Tetralogy of Fallot (GATA4)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• 46XX sex reversal 1 (SRY)
• 46XX sex reversal 4 (NR5A1)
• 46XY gonadal dysgenesis with minifascicular neuropathy (DHH)
• 46XY sex reversal 2, dosage-sensitive (NR0B1)
• 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 21-hydroxylase deficiency (CYP21A2)
• Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency (HSD3B2)
• Adrenal hypoplasia, congenital (NR0B1)
• Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete (CYP11A1)
• Adrenocortical insufficiency (NR5A1)
• Aldosteronism, glucocorticoid-remediable (CYP11B1)
• Androgen insensitivity (AR)
• Androgen insensitivity, partial, with/-out breast cancer (AR)
• Antley-Bixler syndrome with genital anomalies + disordered steroidogenesis (POR)
• Aromatase deficiency (CYP19A1)
• Aromatase excess syndrome (CYP19A1)
• CHARGE syndrome (CHD7)
• Campomelic dysplasia with autosomal sex reversal (SOX9)
• Denys-Drash syndrome (WT1)
• Frasier syndrome (WT1)
• Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
• Hypogonadotropic hypogonadism 5 with/-out anosmia (CHD7)
• Hypospadias 1, XL (AR)
• Hypospadias 2, XL (MAMLD1)
• IMAGE syndrome (CDKN1C)
• Lipoid adrenal hyperplasia (STAR)
• Luteinizing hormone resistance, female (LHCGR)
• MIRAGE syndrome (SAMD9)
• Meacham syndrome (WT1)
• Mental retardation, XL, syndromic 15 [Cabezas type] (CUL4B)
• Mullerian aplasia + hyperandrogenism (WNT4)
• Ovarian dysgenesis 1 (FSHR)
• Palmoplantar hyperkeratosis + true hermaphroditism (RSPO1)
• Palmoplantar hyperkeratosis with squamous cell carcinoma of skin + sex reversal (RSPO1)
• Panhypopituitarism, XL (SOX3)
• Perrault syndrome 1 (HSD17B4)
• Perrault syndrome 2 (HARS2)
• Perrault syndrome 3 (CLPP)
• Perrault syndrome 4 (LARS2)
• Proud syndrome (ARX)
• Pseudohermaphroditism, male, with gynecomastia (HSD17B3)
• Pseudovaginal perineoscrotal hypospadias (SRD5A2)
• SERKAL syndrome (WNT4)
• Smith-Lemli-Opitz syndrome (DHCR7)
• Testicular anomalies with/-out congenital heart disease (GATA4)