Premature ovarian failure 19(POF19)

MedGen UID:: 1779702
•Concept ID:: C5543229
•: Disease or Syndrome

Synonyms:	POF19; PREMATURE OVARIAN FAILURE 19

Gene (location): Gene(s) directly associated with this condition or phenotype.	HSF2BP (21q22.3)

Monarch Initiative:	MONDO:0030985
OMIM®:	619245

Definition

Premature ovarian failure-19 (POF19) is characterized by irregular menses that cease in the third decade of life, associated with infertility (Felipe-Medina et al., 2020). For a general phenotypic description and discussion of genetic heterogeneity of premature ovarian failure, see POF1 (311360). [from OMIM]

Clinical features

From HPO

Female infertility

MedGen UID:: 5795
•Concept ID:: C0021361
•: Pathologic Function

Infertility in a woman.

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Premature ovarian insufficiency

MedGen UID:: 9963
•Concept ID:: C0025322
•: Disease or Syndrome

Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian inssuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea.

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Irregular menstruation