China
Africa
Explore chapters and articles related to this topic
The female reproductive system
Published in C. Simon Herrington, Muir's Textbook of Pathology, 2020
These tumours differentiate along female (granulosa and theca cell tumours) or male (Sertoli/Leydig cell tumour) lines. Granulosa cell tumours of adult type are fairly common, especially in postmenopausal women, behave in a low-grade malignant fashion, and may secrete oestrogens. These tumours harbour the C134W FOXL2 mutation, which can be useful diagnostically and is an example of a pathognomonic (defining) mutation. As a result of their oestrogen secretion, adult-type granulosa cell tumours are associated with endometrial hyperplasia and endometrial carcinoma. Granulosa cell tumours of the juvenile type are rare and are not associated with FOXL2 mutation. Ovarian fibromas and thecomas (Figure 15.16) are also fairly common, but are usually benign. They too may secrete oestrogen (particularly thecomas) and may be associated with endometrial neoplasia.
Fetal Alcohol Syndrome
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Margaret P. Adam, H. Eugene Hoyme
A third phenocopy of FAS is the blepharophimosis syndrome, in which patients can have short palpebral fissures with lateral displacement of the inner canthi. Mental retardation and cardiac defects are variable features of this syndrome. There appears to be two forms of this condition, both of which are inherited in an autosomal dominant fashion. Type I is associated with premature ovarian failure with resultant female infertility. This form appears to be completely penetrant within families. Type II does not appear to affect female fertility and is associated with incomplete penetrance. Both forms are due to mutations in the gene which encodes the transcription factor, FOXL2. Commercial genetic testing is currently available for both types of this syndrome (34,35).
Ovarian Cancer
Published in Dongyou Liu, Tumors and Cancers, 2017
Sex cord-stromal tumor may be associated with Peutz–Jeghers syndrome and mutations in the DICER1 (14q32.13) gene. Further, GCT has characteristic recurrent cytogenetic aberrations of trisomy 12 (isochromosome 12p) and 14, and monosomy 22. A FOXL2 mutation (3q23) is present in most malignant GCT [6].
The use of in silico extreme pathway (ExPa) analysis to identify conserved reproductive transcriptional-regulatory networks in humans, mice, and zebrafish
Published in Systems Biology in Reproductive Medicine, 2023
In this manuscript, a novel mathematical formalism of ExPa analysis was used to study the conserved reproductive TRNs in humans, mice, and zebrafish. Using experimental (transcriptomics) datasets to parameterize TRN models, in silico simulations indicated a high degree of conservation of male sex differentiation genes for DHH, DMRT1, and AR, between humans, mice, and zebrafish. Whereas FOXL2 was the most prominently expressed gene in female humans and mice; and CYP19A1A in female zebrafish. The ExPa analysis indicated that despite a lack of discernable sex determination genes in zebrafish, the overall gene-regulatory pathways responsible for male or female sex differentiation are conserved with those in mammals. ExPa analysis, therefore, provides a framework with which to identify and study the gene-regulatory interactions that influence the development of functional sexual phenotypes in related species. Furthermore, the in silico predicted high conservation of sex differentiation TRNs between mammals and zebrafish indicates this piscine species to be an effective in vivo model to study mammalian reproductive systems.
Premature ovarian insufficiency – the need for a genomic map
Published in Climacteric, 2021
A handful of genetic syndromes are typified by POI as one of their characteristics. The most common is Turner syndrome [32]. This syndrome is characterized by POI and short stature, and is also associated with hypertension, coarctation of the aorta, hypothyroidism, renal abnormalities and lymphedema [40]. Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) type 1 includes POI and eye-lid abnormalities, and is a result of FOXL2 mutations [41]. The gene encodes fork head transcription factor, which plays a vital role in a number of expressive and regulatory physiologic functions. The FOXL2 mutation database has included 200 intragenic variants [42]. GALT mutations exist as recessive inborn errors of metabolism caused by GALT deficiency leading to galactosemia [43]. The phenotype includes POI, developmental delay, cataracts and an inability to process galactose. Perrault syndrome consists of ovarian dysgenesis and sensorineural deafness. Variants in the HSD17B4 gene have been identified in the majority of cases [44]. Other rare syndromes include autoimmune polyendocrine syndromes and adult-onset leukodystrophy [45,46]. Overall, these syndromes account for a very small proportion of cases and are often identified in a pediatric setting.
Premature ovarian insufficiency: an International Menopause Society White Paper
Published in Climacteric, 2020
N. Panay, R. A. Anderson, R. E. Nappi, A. J. Vincent, S. Vujovic, L. Webber, W. Wolfman
Future research will undoubtedly extend the indications further; for example, women with genetic predispositions to POI such as mutations in the FOXL2 gene, which is associated with blepharophimosis, ptosis, and epicanthus inversus syndrome, may be appropriate candidates. While in these women there is not the issue of contamination of the tissue with malignant cells, as is an issue in, for example, leukemia, the question remains of whether these conditions where the pathology resides in the ovary are an appropriate indication for successful use of this approach.