IllnessOvarian insufficiency, primary; differential diagnosis

NGS +

[Sanger]

Premature ovarian insufficiency (POI) refers to the loss of ovarian activity before the age of 40. POI is characterised by menstrual disorders (amenorrhoea, oligomenorrhoea) with increased gonadotropins and low estradiol levels. In addition to genetic causes, autoimmune, infectious, iatrogenic and environmental causes are known. 10-12% of women with POI show chromosomal abnormalities, mostly (94%) X-linked chromosomal disorders. FMR1 premutations are probably responsible for about 5% of all POI cases. Mutations of individual genes are much rarer.

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

• 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)