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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 and fallopian tube cancer
Published in Pat Price, Karol Sikora, Treatment of Cancer, 2014
Andrew R. Clamp, Gordon C. Jayson
Sex cord stromal tumours of the ovary account for 5%-10% of all ovarian tumours and their clinical presentation is often characterized by their ability to secrete active sex hormones.114 Although granulosa cell tumours (GCT) account for up to 70% of these tumours, several other well-defined histological subtypes are recognized (see Table 19.4). Recent molecular studies have revealed critical underlying gene mutations that are present in sex cord stromal tumours. These include the FOXL2 mutations in granulosa tumours115 and DICER-1116,117 mutations in Sertoli-Leydig tumours.
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.