Table 4 Frequency of variants in different POI associated genes both in the literature and 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%