XX gonadal dysgenesis: Difference between revisions

Medical condition

XX gonadal dysgenesis is a type of female hypogonadism in which no functional ovaries are present to induce puberty in an otherwise normal girl whose karyotype is found to be 46,XX. With nonfunctional streak ovaries, she is low in estrogen levels (hypoestrogenic) and has high levels of FSH and LH. Estrogen and progesterone therapy is usually then commenced. Some cases are considered a severe version of premature ovarian failure where the ovaries fail before puberty.^[1]

Some forms of XX gonadal dysgenesis occurs with sensorineural deafness. This type is also known as Perrault syndrome, an autosomal recessive disease affecting both sexes. Males present only with the deafness.^[2]

The term “pure gonadal dysgenesis” (PGD) has been used to distinguish a group of patients from gonadal dysgenesis related to Turner syndrome. In the latter a distinct chromosomal aberration is present, while in PGD the chromosomal constellation is either 46,XX or 46,XY. Thus XX gonadal dysgenesis is also referred to as PGD, 46 XX, and XY gonadal dysgenesis as PGD, 46,XY or Swyer syndrome.^[3] Patients with PGD have a normal chromosomal constellation but may have localized genetic alterations.

Presentation[edit]

Related conditions[edit]

XX gonadal dysgenesis is related to the Swyer syndrome in as much as both conditions have the same phenotype and clinical issues; however in Swyer syndrome the karyotype is 46,XY, and thus gonadectomy is recommended.^[4]

In Turner syndrome there is a demonstrable abnormality in or absence of one of the sex chromosomes that is the cause of the development of gonadal dysgenesis. In contrast XX gonadal dysgenesis has a normal female chromosome situation.^{[citation needed]}

Another type of XX gonadal dysgenesis is known as 46,XX gonadal dysgenesis epibulbar dermoid, which follows the similar symptoms as the regular syndrome, though it also shows signs of epibulbar dermoid (eye disorder).^[5][6][7] It has been suggested to be a new type of syndrome.^[5]

Pathogenesis[edit]

The cause of the condition is often unclear.

In cases without hearing involvement, some implicated genes are:^[8]

• FOXL2, NOBOX, and FIGLA, related to ovarian development.^[8] FOXL2 mutation can cause Blepharophimosis, ptosis, epicanthus inversus syndrome, which affects the eyes at the same time.^[9]
• FSH receptor, related to…