XY gonadal dysgenesis - Wikipedia, the free encyclopedia

22/02/15 00:38

XY gonadal dysgenesis
From Wikipedia, the free encyclopedia

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

Swyer syndrome
Classification and external resources
ICD-10

Q56.4
(http://apps.who.int/classifications/icd10/browse/2015/en#/Q56.4)

ICD-9

752.7 (http://www.icd9data.com/getICD9Code.ashx?icd9=752.7)

OMIM

400044 (http://omim.org/entry/400044)

DiseasesDB 31464 (http://www.diseasesdatabase.com/ddb31464.htm)

MeSH

with female hormones.[1] The

syndrome was named by Gerald
Swyer, an endocrinologist, based in London, UK.

D006061 (https://www.nlm.nih.gov/cgi/mesh/2015/MB_cgi?
field=uid&term=D006061)

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

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.
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Genetic associations
Types include:
Type

OMIM

Gene

Locus

46,XY GONADAL DYSGENESIS, COMPLETE, SRYRELATED

400044
SRY
(https://omim.org/entry/400044)

Yp11.3

46,XY GONADAL DYSGENESIS, COMPLETE OR

PARTIAL, DHH-RELATED

233420
DHH
(https://omim.org/entry/233420)

12q13.1

46,XY GONADAL DYSGENESIS, COMPLETE OR

PARTIAL, WITH OR WITHOUT ADRENAL FAILURE

612965
NR5A1 9q33
(https://omim.org/entry/612965)

46,XY GONADAL DYSGENESIS, COMPLETE, CBX2RELATED

613080
CBX2 17q25
(https://omim.org/entry/613080)

46,XY GONADAL DYSGENESIS, COMPLETE OR

PARTIAL, WITH 9p24.3 DELETION

154230
(https://omim.org/entry/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 indifferent gonads fail to differentiate into testes in an XY (genetically male)
fetus. Without testes, no testosterone or antimllerian hormone (AMH) is produced. Without testosterone, the
wolffian ducts fail to develop, so no internal male organs are formed. Also, the lack of testosterone means that
no dihydrotestosterone is formed and consequently the external genitalia fail to virilize, resulting in normal
female genitalia. Without AMH, the Mllerian ducts develop into normal internal female organs (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.

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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. ^ Massanyi EZ1, Dicarlo HN, Migeon CJ, Gearhart JP (29 December 2012). "Review and management of 46,XY
disorders of sex development.". J Pediatr Urol. 9 (3): 368379. doi:10.1016/j.jpurol.2012.12.002
(https://dx.doi.org/10.1016%2Fj.jpurol.2012.12.002). PMID 23276787
(https://www.ncbi.nlm.nih.gov/pubmed/23276787).

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2. ^ Specific Disorders of Ambiguous Genitalia (http://www.medscape.com/viewarticle/499501_5)

3. ^ Eh, Zheng; Liu, Weili (June 1994). "A familial 46 XY gonadal dysgenesis and high incidence of embryonic gonadal
tumors". Chinese Journal of Cancer Research 6 (2): 144148. doi:10.1007/BF02997250
(https://dx.doi.org/10.1007%2FBF02997250). PMID 7307902 (https://www.ncbi.nlm.nih.gov/pubmed/7307902).

External links
Gonadal dysgenesis (http://wwwpersonal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/N.Justus.html)
Stoicanescu D, Belengeanu V, et al. (2006). "Complete Gonadal Dysgenesis With XY Chromosomal
Constitution" (http://www.acta-endo.ro/actamedica/abstract.php?doi=2006.465). Acta Endocrinologica
(Buc) 2 (4): 46570. doi:10.4183/aeb.2006.465 (https://dx.doi.org/10.4183%2Faeb.2006.465).
Retrieved from "http://en.wikipedia.org/w/index.php?title=XY_gonadal_dysgenesis&oldid=643320528"
Categories: Syndromes Gynaecologic disorder Congenital disorders of genital organs
Intersex and medicine
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