Ovarian dysgenesis in individuals with chromosomal abnormalities

Cunniff, Christopher; Jones, Kenneth Lyons; Benirschke, Kurt

doi:10.1007/bf00201540

Cited by 50 publications

(32 citation statements)

References 23 publications

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“…In dysgenetic ovaries, failure in meiotic pairing of different chromosomes may be followed by loss or absence of oocytes in animals and humans [5,12,23]. This is well documented in Turner patients, who show degeneration of meiotic oocytes, and loss of almost all oocytes in early childhood [21].…”

Section: Discussionmentioning

confidence: 99%

“…Most gonadoblastomas arise in dysgenetic gonads of XY sex-reversed individuals, who are phenotypically females due to mutations of the single sex determining region gene of the Y chromosome (SRY) or few other genes involved in the early sex determining pathway [1,4,5]. Mutation and dysfunction of SRY lead to impairment or absence of fetal testes, dysgenetic gonads, and partial or complete female sex development [3,9].…”

Section: Introductionmentioning

confidence: 99%

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Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary

et al. 2005

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Gonadoblastomas are neoplasms of dysgenetic gonads which may undergo regression or become overgrown by malignant germ cell tumors (mGCTs). Since little is known about their relationship to normal gonadal development and mGCTs, we studied the phenotype and antigenic profile of gonadoblastomas in comparison with adjacent dysgerminomas and fetal gonads. Three cases of gonadoblastomas and fetal gonads of both sexes were analyzed using oncofetal markers to M2A-antigen (M2A), germ cell alkaline phosphatase (PLAP/GCAP), receptor tyrosine kinase c-kit (c-kit), and somatic angiotensin converting enzyme (sACE) as well as the proliferation marker MIB-1. Morphologically, microfollicular pattern of gonadoblastomas showed a fetal germ cell organization reminiscent of oocytic clusters of fetal ovaries. They contained both cell types, similar to oocytes (M2A-, GCAP-, c-kit+/-, sACE-) and oogonia (M2A+, GCAP+, c-kit+, sACE+). The percentage of germ cells immunoreactive for oncofetal markers and the proliferation index increased from microfollicular over coronary patterns to adjacent dysgerminomas. Supportive cells of gonadoblastomas showed a uniform phenotype (CK18+, vimentin+, sACE+, alpha-inhibin+, M2A-) but in contrast to fetal germ cells lacked a clear equivalence to fetal tissues. Our results show that gonadoblastomas mimic female fetal ovary and exhibit a stepwise progression from follicular pattern to coronary pattern and finally to dysgerminomas.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary

et al. 2005

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“…Ovarian follicles are replaced by connective tissue or streak gonad. Follicular atresia then results with ovarian failure in most females with TS [4]. Despite the theory of dysgenesis, 14% of TS patient with a 45X karyotype and 32% with mosaic karyotype can present with secondary sexual characteristics [5], and 10% complete puberty spontaneously [6].…”

Section: Introductionmentioning

confidence: 99%

Knowledge and Attitude in Indonesian Patients and Parents of Patient with Turner Syndrome towards Fertility Treatment

Kemal¹,

Deliandra²,

Julianti³

et al. 2017

Kme

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The objective of the study was to prospectively determine the knowledge and attitude in Indonesian girls and parents of patients diagnosed with Turner Syndrome (TS) towards future fertility treatment possibility. Data collected from in-depth interviews with 20 TS patients or parents. The first group was composed of 16 patients selected from Indonesian Turner Syndrome Society and 4 patients from dr. Cipto Mangunkusumo National Hospital Jakarta. All participants were stratified by characteristics, physical appearance, hormonal therapy and TS knowledge and attitude towards future fertility treatment possibility. More than half of the TS patients belong to the support grup have better knowledge than the patients in the non support group. This study showed that 31.25% patients from support group and 25% patients from non support group believed that TS patients still have normal social life, but still concern about TS fertility (support group 87% and non support group 100%). Most of them (support group 93.75% and non support group 100%) agree to have possible fertility treatment, but 31.25% of them insisted on lower cost of hormonal treatment and medication. The greatest barriers for accepting fertility preservation by the parents and TS patients were lack of information (41.2%), fear of complication (22.1%) and lower cost for hormonal treatment (15.3%). The challenges of counseling and fertility treatment for TS patients in Indonesia are the time pressure diagnosis and the possible fertility treatment and lack of knowledge about TS fertility condition by pediatric endocrinologist, fertility experts and parents; therefore a team consisting of pediatric endocrinologist, infertility specialists and support group is recommended in these setting.

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“…Cunniff et al (1991) have investigated ovaries of women with trisomies or with unbalanced autosomal translocations, and have demonstrated a variable loss of oocytes ranging from a slight decrease to complete absence.…”

Section: Introductionmentioning

confidence: 99%

Balanced autosomal translocations and ovarian dysgenesis

et al. 1994

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We report two unrelated women with gonadal dysgenesis, and a (6;15)(p21.3;q15) and a (8;9)(p11.2;q12) balanced translocation, respectively. The patients were of normal stature and showed no phenotypic abnormality or malformation other than ovarian failure. We are not aware of other reports of balanced autosomal translocations associated with gonadal dysgenesis in women. The occurrence of chromosome anomaly and sterility in the two females may be coincidental. However, studies on mouse gametic progression indicate that balanced autosomal translocations can cause oocyte degeneration and reduction of reproductive lifespan. On the basis of these observations, we cannot exclude that the ovarian failure in our patients is the result of oocyte degeneration because of as yet unidentified consequences of the balanced translocations.

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Ovarian dysgenesis in individuals with chromosomal abnormalities

Cited by 50 publications

References 23 publications

Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary

Gonadoblastoma: evidence for a stepwise progression to dysgerminoma in a dysgenetic ovary

Knowledge and Attitude in Indonesian Patients and Parents of Patient with Turner Syndrome towards Fertility Treatment

Balanced autosomal translocations and ovarian dysgenesis

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