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Pelvic Ultrasound for Endometriosis: General Features
Published in Nazar N. Amso, Saikat Banerjee, Endometriosis, 2022
Caterina Exacoustos, Lucia Lazzeri
The vaginal transducer can also be used transrectally, a technique that is very useful for the evaluation of virginal patients or those with congenital vaginal hypoplasia or agenesis. The probe is inserted into the rectum and advanced until a midline image of the cervix is visualized in a longitudinal scan. The uterine cervix, parametria, vagina and rectal walls are evaluated by moving the transducer along the main axis in both axial and longitudinal planes. The view is quite similar to the vaginal approach except the vaginal canal is better seen since it is in front of the tip of the probe (Figure 3.1).
Normal and abnormal development of the genitalia
Published in David M. Luesley, Mark D. Kilby, Obstetrics & Gynaecology, 2016
Rebecca Deans, Sarah M Creighton
Gynaecologists are more often involved in the care of the older child developing ambiguous genitalia at puberty, or in follow-up of adults who underwent feminising genital surgery as children. In many subjects born with ambiguous genitalia, there will be vaginal hypoplasia or agenesis, and the gynaecologist will need to discuss the treatment options at the appropriate time. Where childhood surgery has been performed, there is a strong possibility that repeat surgery may be required for vaginal stenosis, hypoplasia or genital cosmesis. This treatment is indicated to improve psychological and sexual outcomes; however, there have been no studies to provide evidence that improvements in these outcomes are achieved.
Heterochromatin extension: a possible cytogenetic fate of primary amenorrhea along with normal karyotype
Published in Journal of Obstetrics and Gynaecology, 2022
Bishal Kumar Dey, Shanoli Ghosh, Ajanta Halder, Somajita Chakraborty, Sanchita Roy
Reviewing the works of last decade, we have noticed that we have similar numerical and structural abnormalities found in the patients with PA (Table 3). Our previous study which was conducted by Ghosh et al. revealed 14% cases with structural chromosomal anomalies, out of 150 primary amenorrheic females and single case with heterochromatin extension for chromosome 9 (9qh+) along with normal karyotype. But in this present study, we found heterochromatin extension not only for 9qh+ but also for 16qh+. We found a case of age 14 with PA having 46, XX, 9qh+ karyotype with utero-vaginal abnormalities (Müllerian agenesis, hypoplastic ovaries, vaginal hypoplasia, etc.). For normal karyotype with extended heterochromatin, only FSH (p < .05) and TSH (p < .05) varied significantly. The increase in level of gonadotropins (FSH and LH) is higher in case of Turner’s syndrome karyotype with PA associated with increase in heterochromatin region. Perhaps, the concentration of TSH becomes elevated due to the neuro-endocrinological problems that may not be directly associated with PA. Analysis at the molecular level, may be needed to unveil any relationship between heteromorphism and PA taking in to consideration, the more crucial cellular effects of heterochromatin than previously thought. Chromosomal polymorphic variations, consisting of highly repetitive sequences of satellite DNA that do not encode any significant protein are considered to be normal variant. But chromosomal polymorphisms may cause certain clinical effects, such as infertility and recurrent miscarriages that comes from the data of recent studies (An et al. 2016). When infertility and adverse reproductive outcomes are found to be associated with karyotypic presentation with extended heteromorphic regions, it is not accurate to consider heteromorphic variants as being normal structural chromosomal aberrations. With refined molecular techniques, genes for fertility and viability are thought to reside in heterochromatin. DNA sequence analysis of human chromosome 9 has shown that it is highly structurally polymorphic with many intra-chromosomal and inter-chromosomal duplications. In response to environmental stress, there may be transcriptional activation of constitutive heterochromatin domains that lead to altered regulation of the genome and cause aberrations in chromosome pairing and cell division.