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ErkrankungOvarialinsuffizienz, primär; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Ovarialinsuffizienz, primär, mit 11 bzw. zusammen genommen 58 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
OP4953
Anzahl Gene
41 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
21,8 kb (Core-/Basis-Gene)
80,6 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[Sanger]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
BMP151179XL und/oder Dig
FIGLA660AD und/oder Dig
FMR11899XL
FSHR2088AD und/oder AR
GDF91365AR und/oder Dig
HFM14308AR
MCM82523AR
NOBOX2076AD und/oder Dig
NR5A11386AD und/oder AR
PGRMC1588XLR
STAG33678AR
AARS22958AR
BMPR1B1509AD und/oder AR
CLPP834AR
CYP17A11527AR
CYP19A11512AR
DIAPH23306XLD
EIF2B41569AR
EIF2B52166AR
ERCC64482AD und/oder AR und/oder SMu und/oder Sus
FANCM6147AR und/oder Sus
FOXL21131AD und/oder Dig
FSHB390AR
GALT1140AR und/oder Dig
HARS21521AR
LARS22712AR
LMNA1995AD und/oder AR und/oder Dig
MCM93432AR
MRPS221083AR
MSH52505AR
NANOS3593AD
NOG699AD
NUP1072778AR
PMM2741AR
POF1B1770XLR
POLG3720AD und/oder AR
POU5F11083AD
PSMC3IP654AR
RCBTB11596AD und/oder AR
SOHLH11164AD und/oder AR
TWNK2055AD und/oder AR

Infos zur Erkrankung

Klinischer Kommentar

Vorzeitige Ovarialinsuffizienz (POI) bezeichnet den Verlust der Ovarialaktivität vor dem Alter von 40 Jahren. POI ist gekennzeichnet durch Menstruationsstörungen (Amenorrhoe, Oligomenorrhoe) mit erhöhten Gonadotropinen und niedrigem Estradiolspiegel. Neben den genetischen sind autoimmune, infektiöse, iatrogene sowie Umwelt-bedingte Ursachen bekannt. 10-12% der Frauen mit POI zeigen chromosomale Auffälligkeiten, zumeist (94%) X-chromosomale Störungen. FMR1 Prämutationen sind wahrscheinlich für ca. 5% aller POI-Fälle verantwortlich. Weit seltener sind Mutationen einzelner Gene nachzuweisen.

Referenz: https://www.eshre.eu/Guidelines-and-Legal/Guidelines/Management-of-premature-ovarian-insufficiency.aspx

 

Synonyme
  • Alias: (Genetic) non-acquired ovarian insufficiency
  • Alias: 46XX pure gonadal dysgenesis; 46XX complete gonadal dysgenesis; XX female gonadal dysgenesis
  • Alias: Hypergonadotropic ovarian dysgenesis
  • Alias: Primary ovarian insufficiency
  • Allelic: 46XX sex reversal 4 (NR5A1)
  • Allelic: 46XY sex reversal 3 (NR5A1)
  • Allelic: Adrenocortical insufficiency (NR5A1)
  • Allelic: Blepharophimosis, epicanthus inversus + ptosis, type 1-2 (FOXL2)
  • Allelic: D-bifunctional protein deficiency (HSD17B4)
  • Allelic: Leukoencephalopathy with vanishing white matter (EIF2B4, EIF2B5)
  • Allelic: Mosaic variegated aneuploidy syndrome 1 (BUB1)
  • Allelic: Ovarian hyperstimulation syndrome (FSHR)
  • Allelic: Ovarian response to FSH stimulation (FSHR)
  • Allelic: Spermatogenic failure 52 (C14orf39)
  • Allelic: Spermatogenic failure 8 (NR5A1)
  • Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency (CYP21A2)
  • Allelic: Spermatogenic failure 15 (SYCE1)
  • Autoimmune polyendocrinopathy syndrome, type I, with/-out reversible metaphyseal dysplasia (AIRE)
  • FSH-RO Follicular stimulating hormone-resistant ovaries
  • Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency (CYP21A2)
  • Hypogonadotropic hypogonadism 24 without anosmia (FSHB)
  • Leukoencephalopathy, progressive, with ovarian failure (AARS2)
  • Malouf syndrome (LMNA)
  • Muscular dystrophy, congenital hearing loss + ovarian insufficiency syndrome (GGPS1)
  • Ovarian dysgenesis 1 (FSHR)
  • Ovarian dysgenesis 2 (BMP15)
  • Ovarian dysgenesis 3 (PSMC3IP)
  • Ovarian dysgenesis 6 (NUP107)
  • Ovarian dysgenesis 7 (MRPS22)
  • Ovarian dysgenesis 8 (ESR2)
  • Ovarioleukodystrophy (EIF2B4, EIF2B5)
  • Perrault syndrome 1 (HSD17B4)
  • Perrault syndrome 2 (HARS2)
  • Perrault syndrome 3 (CLPP)
  • Perrault syndrome 4 (LARS2)
  • Perrault syndrome 5 (TWNK)
  • Perrault syndrome 6 (ERAL1)
  • Perrault syndrome [panelapp] (SGO2)
  • Premature chromatid separation trait (BUB1)
  • Premature ovarian failure 10 (MCM8)
  • Premature ovarian failure 11 (ERCC6)
  • Premature ovarian failure 12 (SYCE1)
  • Premature ovarian failure 13 (MSH5)
  • Premature ovarian failure 14 (GDF9)
  • Premature ovarian failure 15 (FANCM)
  • Premature ovarian failure 18 (C14orf39)
  • Premature ovarian failure 2A (DIAPH2)
  • Premature ovarian failure 2B (POF1B)
  • Premature ovarian failure 3 (FOXL2)
  • Premature ovarian failure 4 (BMP15)
  • Premature ovarian failure 5 (NOBOX)
  • Premature ovarian failure 6 (FIGLA)
  • Premature ovarian failure 7 (NR5A1)
  • Premature ovarian failure 8 (STAG3)
  • Premature ovarian failure 9 (HFM1)
  • Premature ovarian failure [panelapp] (KHDRBS1)
  • Premature ovarian insufficiency [panelapp] (DACH2)
  • Premature ovarian insufficiency [panelapp] (EIF4ENIF1)
  • Premature ovarian insufficiency [panelapp] (PGRMC1)
  • Premature ovarian insufficiency [panelapp] (POLR2C)
  • Premature ovarian insufficiency [panelapp] (POLR3H)
  • Premature ovarian insufficiency [panelapp] (SYCP2L)
  • Primary ovarian failure [MONDO:0005387] (MSH4)
  • Primary ovarian insufficiency [panelapp] (NANOS3)
  • Primary ovarian insufficiency [panelapp] (SOHLH2)
  • Retinal dystrophy with/-out extraocular anomalies (RCBTB1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder AR und/oder Dig
  • AD und/oder AR und/oder SMu und/oder Sus
  • AD und/oder Dig
  • AR
  • AR und/oder Dig
  • AR und/oder Sus
  • XL
  • XL und/oder Dig
  • XLD
  • XLR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E28.3

Bioinformatik und klinische Interpretation

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