WordNet

free of extraneous elements of any kind; "pure air and water"; "pure gold"; "pure primary colors"; "the violins pure and lovely song"; "pure tones"; "pure oxygen"
in a state of sexual virginity; "pure and vestal modesty"; "a spinster or virgin lady"; "men have decreed that their women must be pure and virginal" (同)vestal, virgin, virginal, virtuous
(used of persons or behaviors) having no faults; sinless; "I felt pure and sweet as a new baby"- Sylvia Plath; "pure as the driven snow"
concerned with theory and data rather than practice; opposed to applied; "pure science"
free from discordant qualities
infertility between hybrids
a gland in which gametes (sex cells) are produced (同)sex gland
of or relating to the gonads; "gonadal hormones"

PrepTutorEJDIC

(金など)『混じりけのない』,純粋の / (水など)『汚れていない』,きれいな / (道徳的に)汚れていない,清らかな / (血統が)純粋の,純血の,きっすいの / 《名詞の前にのみ用いて》《話》全くの / 《名詞の前にのみ用いて》(応用的に対して)理論的な,純粋の
性腺(せん),生殖腺

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2016/12/18 08:08:50」(JST)

wiki en

Gonadal dysgenesis is any congenital developmental disorder of the reproductive system^[1] characterized by a progressive loss of germ cells on the developing gonads of an embryo.^[2] This loss leads to extremely hypoplastic (underdeveloped) and dysfunctioning gonads mainly composed of fibrous tissue, hence the name streak gonads—i.e., a form of aplasia in which the ovary is replaced by functionless tissue. The accompanying hormonal failure also prevents the development of secondary sex characteristics in either sex, resulting in a sexually infantile female appearance and infertility.

The first type of gonadal dysgenesis discovered was Turner syndrome.^[3]

Pathogenesis

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 their chromosomes are XY or XX, will develop external female genitalia. Internal female genitalia, primarily the uterus, may or may not be present depending on the etiology of the disorder.

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.

Embryology

This condition will occur if there is an absence of both Müllerian 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 Müllerian inhibiting factor will allow the Müllerian ducts to differentiate into the oviducts and uterus. In sum, this individual will possess female-like internal and external reproductive characteristics, lacking secondary sex characteristics. The genotype may be either 45,XO, 46,XX or 46,XY.

Causes

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
Exposure to environmental endocrine disruptors

References

^ Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. pp. 221–. ISBN 978-3-540-78354-1. Retrieved 10 November 2010.
^ M. Sperling (2008). Pediatric endocrinology. Elsevier Health Sciences. pp. 667–. ISBN 978-1-4160-4090-3. Retrieved 27 October 2010.
^ Douglas T. Carrell (15 February 2010). Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice. Springer. p. 308. ISBN 978-1-4419-1435-4. Retrieved 27 October 2010.

UpToDate Contents

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1. 原発性無月経の原因causes of primary amenorrhea [show details]
… repair cause XX gonadal dysgenesis in the absence of other syndromic features . The estimated prevalence of 46,XY gonadal dysgenesis is 1:100,000 births. In complete 46,XY gonadal dysgenesis, the fibrous …
2. 性分化の差の原因causes of differences of sex development [show details]
…of which is characterized by diminished testicular activity: Gonadal dysgenesis may be complete or partial. Complete XY gonadal dysgenesis (ie, complete failure of testicular development, also called Swyer …
3. 小児や青年のターナー症候群のマネージメントmanagement of turner syndrome in children and adolescents [show details]
…failure in Turner syndrome individuals . Ultimately, almost all girls with Turner syndrome need supplementation with exogenous estradiol. This includes the 15 to 20 percent of girls with Turner syndrome who …
4. 原発性早期卵巣障害（早期卵巣機能不全）の病因と原因pathogenesis and causes of spontaneous primary ovarian insufficiency premature ovarian failure [show details]
… These mutations, which appear to be rare, cause primary amenorrhea associated with POI (XX gonadal dysgenesis). The majority of the mutations identified in these consanguineous families in the absence …
5. 成人のターナー症候群のマネージメントmanagement of turner syndrome in adults [show details]
…for pregnancy in women with Turner syndrome can be found in the 2017 Turner syndrome clinical practice guidelines publication . As noted, most women with Turner syndrome are infertile because of ovarian …

English Journal

17α-HYDROXYLASE DEFICIENCY IS AN UNDERDIAGNOSED DISEASE. HIGH FREQUENCY OF MISDIAGNOSES IN A LARGE COHORT OF BRAZILIAN PATIENTS.

Fontenele R1, Costa-Santos M1, Kater CE1.
Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists.Endocr Pract.2017 Nov 16. doi: 10.4158/EP171987.OR. [Epub ahead of print]
PMID 29144824

Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report.

Yada-Hashimoto N1, Komura H2, Nagata S3, Kubo C3, Fujita M4, Kamiura S1.
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.Gynecol Endocrinol.2017 Oct 31:1-3. doi: 10.1080/09513590.2017.1395844. [Epub ahead of print]
PMID 29084462

Japanese Journal

予防的腹腔鏡下性腺摘除術にて性腺芽腫が発見された46，XY純型性腺異形成の１例

日本外科系連合学会誌 39(4), 771-774, 2014
NAID 130005094963

46, XY性腺形成異常症 (Swyer 症候群) に発生した卵巣混合型悪性胚細胞腫瘍の1例

日本臨床細胞学会雑誌 51(1), 22-27, 2012-01-22
NAID 10030025756

「真性性腺形成不全」

Gonadal dysgenesis
Classification and external resources
ICD-10	Q99.1
ICD-9-CM	758.6
MeSH	D006059
	[edit on Wikidata]

　　[★]

英: pure gonadal dysgenesis

「XX pure gonadal dysgenesis」

　　[★] XX型純粋性腺形成異常症

「XY pure gonadal dysgenesis」

　　[★] XY型純粋性腺形成異常症

「dysgenesis」

　　[★]

異形成、形成不全、形成異常、形成不全症、形成異常症、発育異常、異発生

関: aplasia、aplastic、dysgenetic、dysgenic、dysplasia、dysplastic、heteroplasia、heteroplasmy、hypoplasia、malformation、metaplasia、metaplastic

「gonadal」

　　[★]

adj.

生殖腺の、性腺の

関: genital gland、gonad、gonad gland

「pure」

　　[★]

adj.

純粋な

関: genuinely、purely、sincere

「gonad」

　　[★]

n.

(解剖)生殖巣、生殖腺、性腺、性巣

関: gonadal

[NieschlagBehre2009-1] Eberhard Nieschlag; Hermann M. Behre; Susan Nieschlag (July 2009). Andrology: Male Reproductive Health and Dysfunction. Springer. pp. 221–. ISBN 978-3-540-78354-1. Retrieved 10 November 2010.

[Sperling2008-2] M. Sperling (2008). Pediatric endocrinology. Elsevier Health Sciences. pp. 667–. ISBN 978-1-4160-4090-3. Retrieved 27 October 2010.

[Carrell2010-3] Douglas T. Carrell (15 February 2010). Reproductive Endocrinology and Infertility: Integrating Modern Clinical and Laboratory Practice. Springer. p. 308. ISBN 978-1-4419-1435-4. Retrieved 27 October 2010.

リンク元	「真性性腺形成不全」
拡張検索	「XX pure gonadal dysgenesis」「XY pure gonadal dysgenesis」
関連記事	「dysgenesis」「gonadal」「pure」「gonad」

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案内

案内

pure gonadal dysgenesis