Ovary
Gonadal dysgenesis
Pure (complete) gonadal dysgenesis 46XY
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: Gonadal dysgenesis [title] 46,XY [title]
Table of Contents
Definition / general | Terminology | Etiology | Clinical features | Laboratory | Prognostic factors | Case reports | Treatment | Microscopic (histologic) description | Additional referencesCite this page: Ghofrani M Pure (complete) gonadal dysgenesis 46XY. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/ovarynontumorpuregonadaldysgenesis46XY.html. Accessed June 5th, 2023.
Definition / general
- Form of gonadal dysgenesis (underdeveloped and dysfunctioning testes) associated with male 46,XY genotype and female internal and external phenotype
- Phenotypic female, hypoplastic (streak) gonads without germ cells
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,XY DSD (disorder of sex development)
- Also called Swyer syndrome
Etiology
- Mutation in SRY, the sex determining region of the Y chromosome, is reported in 10 - 15%
- Defects in the genetic pathways that lead to development of testes from indifferent gonads result in hypoplastic (streak) testes and lack of testosterone or anti-Müllerian hormone (AMH) production
Clinical features
- In the absence of testosterone, external genitalia fail to virilize and the Wolffian ducts fail to develop, leading to normal female genitalia and absent internal male organs
- Presents with primary amenorrhea (delayed puberty) since no functional gonads are present to induce puberty
- May develop pubic hair through androgens produced from adrenal gland
Laboratory
- Low serum estrogen and progesterone, high serum FSH and LH
Prognostic factors
- High risk of gonadoblastoma or germ cell tumor from gonads (Zhonghua Fu Chan Ke Za Zhi 2008;43:442)
- Dysgerminoma may develop by age 10 (BJOG 2008;115:737)
Case reports
- Successful pregnancy using donor oocytes and oocyte transfer (Fertil Steril 2008;90:2015.e1)
Treatment
- Early excision of gonads (J Gynecol Obstet Biol Reprod (Paris) 2009;38:220)
- Estrogen and progesterone therapy
Microscopic (histologic) description
- Hypoplastic (streak) gonads without primordial germ cells
- In the absence of AMH, Müllerian ducts develop into normal internal female organs (uterus, fallopian tubes, cervix, vagina)
Additional references
