World Library  
Flag as Inappropriate
Email this Article

XY gonadal dysgenesis

 

XY gonadal dysgenesis

Swyer syndrome
Classification and external resources
ICD-10 Q56.4
ICD-9-CM 752.7
OMIM 400044
DiseasesDB 31464
MeSH D006061

Swyer syndrome, or XY gonadal dysgenesis, is a type of hypogonadism in a person whose karyotype is 46,XY. The person is externally female with streak gonads, and left untreated, will not experience puberty. Such gonads are typically surgically removed (as they have a significant risk of developing tumors) and a typical medical treatment would include hormone replacement therapy with female hormones.[1] The syndrome was named by Gerald Swyer, an endocrinologist, based in London, UK.

Contents

  • Swyer syndrome as a form of "pure gonadal dysgenesis" 1
  • Genetic associations 2
  • Pathogenesis 3
  • Diagnosis 4
  • Treatment 5
  • Gonadal dysgenesis and other similar or related conditions 6
  • References 7
  • External links 8

Swyer syndrome as a form of "pure gonadal dysgenesis"

There are several forms of gonadal dysgenesis. The term “pure gonadal dysgenesis” (PGD) has been used to describe conditions with normal sets of sex chromosomes (e.g., 46,XX or 46,XY), as opposed to those whose gonadal dysgenesis results from missing all or part of the second sex chromosome. The latter group includes those with Turner syndrome (i.e., 45,X) and its variants, as well as those with mixed gonadal dysgenesis and a mixture of cell lines, some containing a Y chromosome (e.g., 46,XY/45,X).

Thus Swyer syndrome is referred to as PGD, 46,XY, and XX gonadal dysgenesis as PGD, 46,XX.[2] Patients with PGD have a normal karyotype but may have defects of a specific gene on a chromosome.

Genetic associations

Types include:

Type OMIM Gene Locus
46,XY GONADAL DYSGENESIS, COMPLETE, SRY-RELATED 400044 SRY Yp11.3
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, DHH-RELATED 233420 DHH 12q13.1
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH OR WITHOUT ADRENAL FAILURE 612965 NR5A1 9q33
46,XY GONADAL DYSGENESIS, COMPLETE, CBX2-RELATED 613080 CBX2 17q25
46,XY GONADAL DYSGENESIS, COMPLETE OR PARTIAL, WITH 9p24.3 DELETION 154230 9p24.3

Pathogenesis

The first known step of sexual differentiation of a normal XY fetus is the development of testes. The early stages of testicular formation in the second month of gestation requires the action of several genes, of which one of the earliest and most important is SRY, the sex-determining region of the Y chromosome. Mutations of SRY account for many cases of Swyer syndrome.

When such a gene is defective, the uterus, fallopian tubes, cervix, vagina).

A baby who is externally a girl is born and is normal in all anatomic respects except that the child has nonfunctional streak gonads instead of ovaries or testes. As girls' ovaries normally produce no important body changes before puberty, a defect of the reproductive system typically remains unsuspected until puberty fails to occur in people with Swyer syndrome. They appear to be normal girls and are generally considered so.

Diagnosis

Due to the inability of the streak gonads to produce sex hormones (both estrogens and androgens), most of the secondary sex characteristics do not develop. This is especially true of estrogenic changes such as breast development, widening of the pelvis and hips, and menstrual periods. As the adrenal glands can make limited amounts of androgens and are not affected by this syndrome, most of these persons will develop pubic hair, though it often remains sparse.

Evaluation of delayed puberty usually reveals elevation of gonadotropins, indicating that the pituitary is providing the signal for puberty but the gonads are failing to respond. The next steps of the evaluation usually include checking a karyotype and imaging of the pelvis. The karyotype reveals XY chromosomes and the imaging demonstrates the presence of a uterus but no ovaries (the streak gonads are not usually seen by most imaging). Although an XY karyotype can also indicate a person with complete androgen insensitivity syndrome, the absence of breasts, and the presence of a uterus and pubic hair exclude the possibility. At this point it is usually possible for a physician to make a diagnosis of Swyer syndrome.

Treatment

Upon diagnosis, estrogen and progesterone therapy is typically commenced, prompting the development of female characteristics.

The consequences of streak gonads to a person with Swyer syndrome:

  1. Gonads cannot make estrogen, so the breasts will not develop and the uterus will not grow and menstruate until estrogen is administered. This is often given transdermally.
  2. Gonads cannot make progesterone, so menstrual periods will not be predictable until progestin is administered, usually as a pill.
  3. Gonads cannot produce eggs so conceiving children naturally is not possible. A woman with a uterus and ovaries but without female gamete is able to become pregnant by implantation of another woman's fertilized egg (embryo transfer).
  4. Streak gonads with Y chromosome-containing cells have a high likelihood of developing cancer, especially gonadoblastoma.[3] Streak gonads are usually removed within a year or so of diagnosis since the cancer can begin during infancy.

Gonadal dysgenesis and other similar or related conditions

Swyer syndrome represents one phenotypic result of a failure of the gonads to develop properly, and hence is part of a class of conditions termed gonadal dysgenesis. There are many forms of gonadal dysgenesis.

Swyer syndrome is an example of a condition in which an externally unambiguous female body carries dysgenetic, atypical, or abnormal gonads. Other examples include complete androgen insensitivity syndrome, partial X chromosome deletions, lipoid congenital adrenal hyperplasia, and Turner syndrome.

References

  1. ^
  2. ^ Specific Disorders of Ambiguous Genitalia
  3. ^

External links

  • Gonadal dysgenesis
This article was sourced from Creative Commons Attribution-ShareAlike License; additional terms may apply. World Heritage Encyclopedia content is assembled from numerous content providers, Open Access Publishing, and in compliance with The Fair Access to Science and Technology Research Act (FASTR), Wikimedia Foundation, Inc., Public Library of Science, The Encyclopedia of Life, Open Book Publishers (OBP), PubMed, U.S. National Library of Medicine, National Center for Biotechnology Information, U.S. National Library of Medicine, National Institutes of Health (NIH), U.S. Department of Health & Human Services, and USA.gov, which sources content from all federal, state, local, tribal, and territorial government publication portals (.gov, .mil, .edu). Funding for USA.gov and content contributors is made possible from the U.S. Congress, E-Government Act of 2002.
 
Crowd sourced content that is contributed to World Heritage Encyclopedia is peer reviewed and edited by our editorial staff to ensure quality scholarly research articles.
 
By using this site, you agree to the Terms of Use and Privacy Policy. World Heritage Encyclopedia™ is a registered trademark of the World Public Library Association, a non-profit organization.
 


Copyright © World Library Foundation. All rights reserved. eBooks from Project Gutenberg are sponsored by the World Library Foundation,
a 501c(4) Member's Support Non-Profit Organization, and is NOT affiliated with any governmental agency or department.