Table 7 The genetic causes related to postovarian female infertility: from the first observation to the report

Underdeveloped or absent uterus and abnormalities of other reproductive organs; normal female external genitalia, breasts; hyperandrogenism; facial hirsutism; primary amenorrhea; infertility

Müllerian aplasia and hyperandrogenism (other names: Biason–Lauber syndrome, WNT4 deficiency)

Rare

Molecular diagnosis

WNT4 gene

NA

AD or de novo

✓

Abnormalities of the reproductive system

[97,98,99]

Vagina and uterus to be underdeveloped or absent, although external genitalia are normal, primary amenorrhea

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome (type 1)

1 in 4500

Molecular diagnosis

ESR1, OXTR, WNT9B

NA

AD

✓

Abnormalities of the reproductive system

[100,101,102]

Underdeveloped or absent vagina and uterus, although external genitalia are normal; primary amenorrhea; unilateral renal agenesis; skeletal abnormalities; hearing loss or heart defects

Mayer–Rokitansky–Küster–Hauser (MRKH) syndrome (type 2)

Bone marrow failure, hypopigmentation, short stature, physical abnormalities, organ defects (gastrointestinal abnormalities; heart defects; eye abnormalities, malformed ears and hearing loss), and an increased risk of certain cancers; abnormal genitalia or malformations of the reproductive system and infertility

Fanconi anemia (Fanconi pancytopenia

Fanconi panmyelopathy)

1 in 160,000 (more common among people of Ashkenazi Jewish descent, the Roma population of Spain, and black South Africans)

Molecular diagnosis

FANCA, FANCC and FANCG (90%)

NA

AR; AD (RAD51-related FA); X-linked (FANCB-related FA).

✓

Bloom syndrome; ataxia–telangiectasia, Nijmegen breakage syndrome (NBS); Seckel syndrome; neurofibromatosis 1; POI

[62, 63]