IllnessPOI - Premature Ovarian Insufficiency, differential diagnosis

NGS +

Sanger

Premature or primary ovarian insufficiency (POI) is a clinical syndrome with loss of ovarian activity before the age of 40. POI is characterised by menstrual disorders (amenorrhoea/oligomenorrhoea) with increased gonadotropins and low oestradiol, and has a prevalence of 1%. POI occurs in (pre-)pubescent girls and women from the second decade onwards. The consequences of POI include reduced life expectancy, mainly due to cardiovascular disease and reduced bone density. Negative effects can affect psychological well-being, quality of life and sexuality. Hormone replacement therapy is therefore sometimes indicated after specific problems (Turner syndrome, breast cancer, etc.) have been considered. After karyotype and fragile X-premutation tests, molecular genetic analyses include a number of autosomal and X-linked genes. While 20% of women with fragile X-premutations develop POI, the detection rate in the other genes is lower. Therefore, a normal DNA result does not exclude genetic POI causes.

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

The FSHR polymorphism p.Asn680Ser may be relevant with regard to dose calculation prior to ovarian stimulation and is therefore reported if explicitly requested. doi: 10.1007/s00129-021-04785-6

• Alias: Follicular stimulating hormone-resistant ovaries
• Alias: Hypergonadotropic ovarian dysgenesis
• Alias: Ovarian insufficiency
• Alias: POI (POF) - premature ovarian insufficiency (failure)
• Alias: Vorzeitige Ovarialinsuffizienz
• Alle3lic: Mitochondrial DNA depletion syndrome 7 [hepatocerebral type] (TWNK)
• Allelic: 46XX sex reversal 4 (NR5A1)
• Allelic: 46XY sex reversal 3 (NR5A1)
• Allelic: Acromesomelic dysplasia, Demirhan type (BMPR1B)
• Allelic: Adrenocortical insufficiency (NR5A1)
• Allelic: Aromatase excess syndrome (CYP19A1)
• Allelic: Blepharophimosis, epicanthus inversus + ptosis, type 1 + 2 (FOXL2)
• Allelic: Brachydactyly, type A1, D + A2 (BMPR1B)
• Allelic: Brachydactyly, type B2 (NOG)
• Allelic: Cardiomyopathy, dilated, 1A (LMNA)
• Allelic: Charcot-Marie-Tooth disease, type 2B1 (LMNA)
• Allelic: Combined oxidative phosphorylation deficiency 8 (AARS2)
• Allelic: D-bifunctional protein deficiency (HSD17B4)
• Allelic: Emery-Dreifuss muscular dystrophy 2, AD (LMNA)
• Allelic: Emery-Dreifuss muscular dystrophy 3, AR (LMNA)
• Allelic: Galloway-Mowat syndrome 7 (NUP107)
• Allelic: Heart-hand syndrome, Slovenian type (LMNA)
• Allelic: Hutchinson-Gilford progeria (LMNAA)
• Allelic: Leukoencephalopathy with vanishing white matter (EIF2B5, EIF2B5)
• 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: Lipodystrophy, familial partial, type 2 (LMNA)
• Allelic: Mandibuloacral dysplasia (LMNA)
• Allelic: Mitochondrial DNA depletion syndrome 4A {Alpers type] (POLG)
• Allelic: Mitochondrial DNA depletion syndrome 4B [MNGIE type] (POLG)
• Allelic: Mitochondrial recessive ataxia syndrome [includes SANDO + SCAE] (POLG)
• Allelic: Mosaic variegated aneuploidy syndrome 1 (BUB1B)
• Allelic: Multiple synostoses syndrome 1 (NOG)
• Allelic: Muscular dystrophy, congenital (LMNA)
• Allelic: Nephrotic syndrome, type 11 (NUP107)
• Allelic: Non-obstructive azoospermia (MSH4)
• Allelic: Ovarian response to FSH stimulation (FSHR)
• Allelic: Precocious puberty, male (LHCGR)
• Allelic: Premature chromatid separation trait (BUB1B)
• Allelic: Progressive external ophthalmoplegia with mitochondrial DNA deletions, AD 3 (TWNK)
• Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
• Allelic: Progressive external ophthalmoplegia, AR 1 (POLG)
• Allelic: Restrictive dermopathy, lethal (LMNA)
• Allelic: Spermatogenic failure 1 (SYCE1)
• Allelic: Spermatogenic failure 32 (SOHLH1)
• Allelic: Spermatogenic failure 52 (C14orf39)
• Allelic: Spermatogenic failure 8 (NR5A1)
• Allelic: Spinal and bulbar muscular atrophy of Kennedy (AR CAG)
• Allelic: Stapes ankylosis with broad thumbs + toes (NOG)
• Allelic: Symphalangism, proximal, 1A (NOG)
• Allelic: Tarsal-carpal coalition syndrome (NOG)
• 17,20-lyase deficiency, isolated (CYP17A1)
• 17-alpha-hydroxylase/17,20-lyase deficiency (CYP17A1)
• Allelic: Hypogonadotropic hypogonadism 23 +/- anosmia (LHB)
• Allelic: Leydig cell hypoplasia with hypergonadotropic hypogonadism (LHCGR)
• Allelic: Leydig cell hypoplasia with pseudohermaphroditism (LHCGR)
• Allelic: Precocious puberty, male (LHCGR)
• Aromatase deficiency (CYP19A1)
• Autoimmune polyendocrinopathy, type I, with/-out reversible metaphyseal dysplasia (AIRE)
• Congenital disorder of glycosylation, type Ia (PMM2)
• Galactosemia (GALT)
• Hypogonadotropic hypogonadism 24 without anosmia (FSHB)
• Leukoencephalopathy, progressive, with ovarian failure (AARS2)
• Luteinizing hormone resistance, female (LHCGR)
• 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 4 (MCM9)
• Ovarian dysgenesis 5 (SOHLH1)
• Ovarian dysgenesis 6 (NUP107)
• Ovarian hyperstimulation syndrome (FSHR)
• Ovarioleukodystrophy (EIF2B4, EIF2B5)
• Perrault syndrome 1 (HSD17B4)
• Perrault syndrome 3 (CLPP)
• Perrault syndrome 5 (TWNK)
• Perrault syndrome [panelapp] (SGO2)
• Premature ovarian failure 1 (POF1; FMR1, 55-200 CCG repeats)
• Premature ovarian failure 10 (MCM8)
• Premature ovarian failure 12 (SYCE1)
• Premature ovarian failure 13 (MSH5)
• Premature ovarian failure 14 (GDF9)
• 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] (BUB1B)
• Premature ovarian failure [panelapp] (EIF4ENIF1)
• Premature ovarian failure [panelapp] (KHDRBS1)
• Premature ovarian insufficiency [panelapp] (BMPR1B)
• Premature ovarian insufficiency [panelapp] (DACH2)
• Premature ovarian insufficiency [panelapp] (PGRMC1)
• Primary ovarian failure [MONDO:0005387] (MSH4)
• Primary ovarian insufficiency [panelapp] (EIF4ENIF1)
• Primary ovarian insufficiency [panelapp] (NANOS3)
• Primary ovarian insufficiency [panelapp] (NOG)
• Primary ovarian insufficiency [panelapp] (POLR2C)
• Primary ovarian insufficiency [panelapp] (POLR3H)
• Primary ovarian insufficiency [panelapp] (POU5F1)
• Primary ovarian insufficiency [panelapp] (SOHLH2)
• Primary ovarian insufficiency [panelapp] (SYCP2L)
• Retinal dystrophy with/-out extraocular anomalies (RCBTB1)