Table 7.

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

Indications for genetic test	Genetic disorder	Frequency	Genetic test	Genetic alterations	ART	Inheritance	Antenatal test	Differential diagnosis	Refs.
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	[97–99]
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	[100–102]
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]

Database sources: NIH, OMIM and OrphaNet

✓, yes; ✗, no; NA, not applicable; POI, primary ovarian insufficiency