- Gonadal dysgenesis
Gonadal dysgenesis Classification and external resources ICD-10 Q99.1 ICD-9 758.6 MeSH D006059
Gonadal dysgenesis is a term used to describe multiple reproductive system development disorders. They are conditions of genetic origin. It is characterized by a progressive loss of primordial germ cells on the developing gonads of an embryo. This loss leads to extremely hypoplastic (underdeveloped) and dysfunctioning gonads mainly composed of fibrous tissue, hence the name streak gonads.
During embryogenesis, without any external influences for or against, the human reproductive system is intrinsically conditioned to give rise to a female reproductive organisation. As a result, if a gonad cannot express its sexual identity via its hormones—as in gonadal dysgenesis—then the affected person, no matter whether genetically male or female, will develop both internal and external female genitalia.
In both sexes, the commencement and progression of puberty require functional gonads that will work in harmony with the hypothalamic and pituitary glands to produce adequate hormones. For this reason, in gonadal dysgenesis the accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility.
This condition will occur if there is an absence of both Mullerian inhibiting factor and testosterone. The absence of testosterone will result in regression of the Wolffian ducts; normal male internal reproductive tracts will not develop. The absence of Mullerian inhibiting factor will allow the Mullerian ducts to differentiate into the oviducts and uterus. In sum, this individual will be genotypically male (i.e., XY), yet will possess female-like internal and external reproductive characteristics.
The condition may be due to:
- Turner syndrome, and its variations (i.e. mosaicism)
- XX gonadal dysgenesis, also pure gonadal dysgenesis, 46, XX
- Swyer syndrome, also pure gonadal dysgenesis, 46, XY
- Perrault syndrome, XX gonadal dysgenesis + sensorineural hearing loss
- Mixed gonadal dysgenesis
- Endocrine disruptors
- ^ M. Sperling (2008). Pediatric endocrinology. Elsevier Health Sciences. pp. 667–. ISBN 9781416040903. http://books.google.com/books?id=jIxXJCxGNvAC&pg=PA667. Retrieved 27 October 2010.
- ^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. pp. 221–. ISBN 9783540783541. http://books.google.com/books?id=mEgckDNkonUC&pg=PA221. Retrieved 10 November 2010.
- ^ Douglas T. Carrell (15 February 2010). Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice. Springer. pp. 308. ISBN 9781441914354. http://books.google.com/books?id=lcBEheiufVcC&pg=PA308. Retrieved 27 October 2010.
Pathology: chromosome abnormalities (Q90–Q99 · 758) Autosomal1q21.1 deletion syndrome/1q21.1 duplication syndrome/TAR syndrome (1) · Wolf-Hirschhorn syndrome (4) · Cri du chat/Chromosome 5q deletion syndrome (5) · Williams syndrome (7) · Jacobsen syndrome (11) · Miller–Dieker syndrome/Smith–Magenis syndrome (17) · DiGeorge syndrome (22) · 22q13 deletion syndrome (22)
genomic imprinting (Angelman syndrome/Prader–Willi syndrome (15))Distal 18q-/Proximal 18q-
X/Y linked TranslocationsLymphoidMyeloidOther Other
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Look at other dictionaries:
gonadal dysgenesis — Abnormal development of a gonad (ovary or testicle). Men with gonadal dysgenesis have a greater risk of developing testicular cancer. Gonadal dysgenesis is usually part of a genetic syndrome … English dictionary of cancer terms
gonadal dysgenesis — 1. defective development of the gonads. 2. Turner syndrome … Medical dictionary
gonadal dysgenesis — see Turner s syndrome … The new mediacal dictionary
XX gonadal dysgenesis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 233300 OMIM mult = XX gonadal dysgenesis OMIM2|233400 Perrault syndrome OMIM2|306100 Swyer syndrome MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID =… … Wikipedia
Mixed gonadal dysgenesis — Classification and external resources DiseasesDB 29266 MeSH D006060 Mixed gonadal dysgenes … Wikipedia
female gonadal dysgenesis — female gonadal dysgenesis. См. дисгенез женских гонад. (Источник: «Англо русский толковый словарь генетических терминов». Арефьев В.А., Лисовенко Л.А., Москва: Изд во ВНИРО, 1995 г.) … Молекулярная биология и генетика. Толковый словарь.
pure gonadal dysgenesis — the gonadal lesions of Turner syndrome occurring without the somatic features … Medical dictionary
46XY gonadal dysgenesis — a complete androgen insensitivity syndrome in which a phenotypic female has a 46,XY karyotype with streak gonads, sexual infantilism, and primary amenorrhea; there are sporadic and X linked types. Called also Swyer syndrome … Medical dictionary
mixed gonadal dysgenesis — a condition in which there is a testis on one side and a streak gonad on the other; those affected typically show some degree of virilization and ambiguous genitalia, and a uterus, vagina, and at least one fallopian tube are usually present. The… … Medical dictionary
Dysgenesis — can be used for:*As a synonym for agenesis referring to the failure of an organ to develop during embryonic growth and development.*To refer to a population undergoing artificial selection, where selection is producing a population considered… … Wikipedia