Frequency | ||
---|---|---|
In the literature | In our cohort | |
X chromosome aberrations | ||
Turner syndrome and related defaults | 4–5% | 0% |
Triple X syndrome | 1–4% | 0% |
Fragile X syndrome (FMR1 premutation) | 3–15% | 0% |
Gene variants (BMP15, PGRMC1, USP9X, XNPEP2, DACH2, HS6ST2) | 3–13.5% | 16.7% |
Autosomal aberrations | ||
Complex disorders | ||
Galactosemia (GALT) | Rare | 16.7% |
BPES (FOXL2) | - | |
APECED (AIRE) | 4.2% | |
Mitochondrial diseases (POLG) | 4.2% | |
Demirhan syndrome (BMPR1B) | 0% | |
PHP1a (GNAS) | 0% | |
Ovarioleucodystrophy (EIF2B) | 10.4% | |
Ataxia telangiectasia (ATM) | 4.2% | |
Perrault syndrome (HSD17B4, HARS2, CLPP, LARS2, C10ORF2) | - | |
Premature aging syndromes: Bloom syndrome (BLM) Werner syndrome (WRN) GAPO disease (ANTXR1) | - | |
Isolated diseases | ||
FSH/LH resistency (FSHR and LHCGR) | 0–1% | 2.1% |
INHA variants | 0–11% | - |
GDF9 variants | 1.4% | 2.1% |
FOXO3 variants | 2.2% | - |
NOBOX variants | 0–6% | 6.3% |
FIGLA variants | 1–2% | - |
NR5A1 variants | 1.6% | - |
LHX8 variants | Rare | - |
DNA replication, repair and meiosis gene variants (DAZL, DMC1, MSH4, MSH5, SPO11, STAG3, SMC1B, REC8, POF1B, HFM1, MCM8, MCM9, SYCE1, PSMC3IP, NUP107, FANCA, FANCC, FANCG, ATM) | N/A | 8.4% |