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

From: The evolving role of genetic tests in reproductive medicine

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 [97,98,99]
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]
  1. Database sources: NIH, OMIM and OrphaNet
  2. , yes; ✗, no; NA, not applicable; POI, primary ovarian insufficiency