Ovary
Gonadal dysgenesis
Pure (complete) gonadal dysgenesis 46XX
Author: Mohiedean Ghofrani, M.D.
Last author update: 1 December 2011
Last staff update: 14 October 2020
Copyright: 2002-2023, PathologyOutlines.com, Inc.
PubMed Search: 46,XX [title] gonadal dysgenesis [title]
Table of Contents
Definition / general | Terminology | Etiology | Clinical features | Laboratory | Treatment | Microscopic (histologic) description | Additional referencesCite this page: Ghofrani M Pure (complete) gonadal dysgenesis 46XX. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis46XX.html. Accessed June 5th, 2023.
Definition / general
- Form of gonadal dysgenesis (underdeveloped and dysfunctioning ovaries) associated with female 46,XX genotype and female internal and external phenotype
- Phenotypic female 46,XX but no functional ovaries are present to induce puberty (may have streak ovaries)
Terminology
- Term gonadal dysgenesis originally referred to Turner syndrome but it is now applied to other conditions as well
- Under the new nomenclature, this form of gonadal dysgenesis is considered a type of 46,XX DSD (disorder of sex development)
- Perrault syndrome: 46,XX gonadal dysgenesis with sensorineural hearing loss
Etiology
- May be familial (Am J Med Sci 1980;280:157)
- Occasionally due to mutation in FSH receptor (Cell 1995;82:959)
- For reasons that are not clear, primordial germ cells do not form or interact with the gonadal ridge or undergo accelerated atresia
Clinical features
- First clinical manifestation is usually absence of expected female secondary sex characteristic development at puberty
Laboratory
- Low serum estrogen and progesterone (since no functional ovaries), high serum FSH and LH
Treatment
- Estrogen and progesterone therapy
Microscopic (histologic) description
- Progressive loss of primordial germ cells in the developing gonads of the embryo leads to extremely hypoplastic ovaries mainly composed of fibrous tissue, hence the name streak gonads
Additional references
