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Genetics and metabolic disorders
Published in Jagdish M. Gupta, John Beveridge, MCQs in Paediatrics, 2020
Jagdish M. Gupta, John Beveridge
Girls with Turner syndrome are phenotypically female. Infertility is almost invariable and is due to gonadal dysgenesis. Apart from shortness, most Turner syndrome girls would pass for normal in society. About 15% have coarctation of the aorta which may present with hypertension; hypertension is also more common in this group in the absence of coarctation. Puffy feet and hands often persist beyond the first year. Turner syndrome girls often have difficulty with mathematical and spatial concepts but IQ is normal overall.
Paediatric Urology
Published in Manit Arya, Taimur T. Shah, Jas S. Kalsi, Herman S. Fernando, Iqbal S. Shergill, Asif Muneer, Hashim U. Ahmed, MCQs for the FRCS(Urol) and Postgraduate Urology Examinations, 2020
Jemma Hale, Arash K. Taghizadeh
The next consideration is the development of the gonads. Where gonads have formed abnormally there is gonadal dysgenesis. This may be complete or partial. It may result in streak gonads or in an ovo-testis combination.
Cancer of the Ovary
Published in Jennifer L. Kelsey, Nancy G. Hildreth, Breast and Gynecologic Cancer Epidemiology, 2019
Jennifer L. Kelsey, Nancy G. Hildreth
It has been established that three rare genetic syndromes, the Peutz-Jeghers syndrome, the basal cell nevus syndrome, and gonadal dysgenesis, predispose to ovarian tumors. The Peutz-Jeghers syndrome, which is characterized by mucotaneous pigmentation and gastrointestinal polyposis, is associated particularly with tumors of the granulosa cell type.105–108 The ovarian tumors often occur at a relatively young age. The reason for an increased incidence of ovarian tumors among women with this syndrome is unknown, but Christian106 has hypothesized that a common embryological defect may predispose to ovarian tumors and the Peutz-Jeghers syndrome. The basal cell nevus syndrome, a rare syndrome characterized by multiple basal cell tumors of the skin, cysts of the jaw, abnormalities of the ribs and metacarpal bones, and several endocrine abnormalities, is associated with benign ovarian fibromas.109,110 Individuals with dysgenetic gonads (phenotypic females who usually have a karyotype of 46 XY or 45 XO/ 46 XY) are prone to have a distinctive type of benign ovarian tumor called a gonado-blastoma.111–118 First described by Scully,119 these tumors are composed of germ cells and immature Sertoli or granulosa cells and have been found to occur almost exclusively in individuals with dysgenetic gonads. These tumors occur less often among individuals with Turner’s syndrome than among those with pure gonadal dysgenesis.111,118
Disorders or Differences of Sex Development? Views of Affected Individuals on DSD Terminology
Published in The Journal of Sex Research, 2021
Elena Bennecke, Birgit Köhler, Robert Röhle, Ute Thyen, Katharina Gehrmann, Peter Lee, Anna Nordenström, Peggy Cohen-Kettenis, Clair Bouvattier, Claudia Wiesemann
According to the Chicago consensus, conditions can be classified into three groups depending on karyotype and pathogenesis: sex chromosome DSD, XY DSD and XX DSD. Sex chromosome DSD includes mixed gonadal dysgenesis (46,XY/45,XO), 46,XY/46,XX conditions as well as Turner syndrome and Klinefelter syndrome. XY DSD incorporates XY gonadal dysgenesis, androgen insensitivity syndrome (AIS), disorders of androgen synthesis, disorders of AMH synthesis and action, and severe hypospadias. The XX DSD category includes congenital adrenal hyperplasia (CAH), XX gonadal dysgenesis, and uterine and vaginal anomalies. Thus, the umbrella term Disorders of Sex Development includes conditions with diverse genetic etiology, varying levels of prenatal androgen effects, and varying phenotypes of genitalia (Jürgensen et al., 2010). It is recognized that this is not an ideal classification as, for example, ovotesticular DSD karyotypes vary to a large degree and may be listed within any of the three categories.
Art Therapy With Women With Infertility: A Mixed-Methods Multiple Case Study
Published in Art Therapy, 2018
Kaitlyn Streeter, Sarah Deaver
Infertility is defined as the inability to conceive after 1 year or more of actively trying. There are multiple causes for infertility, including such medical conditions as hypothalamic–pituitary disorders, polycystic ovary disease, autoimmune-associated premature ovarian failure, gonadal dysgenesis, and ovarian destruction (Rosene-Montella, Keely, Laifer, & Lee, 2000). Women experiencing infertility might not only face physiological complications, but also experience a wealth of negative effects on their psychological well-being. Common concerns experienced by these women include (a) the unforeseen nature of infertility; (b) guilt for waiting too long to seek treatment; (c) fear that the problem will remain unresolved; (d) frustration and anger with the delays in assessing care; (e) pain, stress, and costs associated with treatment; and (f) difficulty communicating about this issue with family and friends (Hughes & da Silva, 2011). The emotional responses experienced with infertility do not follow a sequential pattern, but might be cyclic in accordance with the woman’s menstrual cycle. The rise of hope during ovulation that is followed by a sense of loss can be difficult to cope with or verbalize (Woods, Olshansky, & Draye, 2009).
A case series of patients with gonadal dysgenesis-associated mixed malignant ovarian germ cell tumor
Published in Gynecological Endocrinology, 2020
Wenqing Yang, Lisha Wu, Qiongqiong He, Yi Zhang, Yu Zhang, Yan Tian
Gonadal dysgenesis is a rare condition, which comprises a large group of congenital conditions of the urogenital tract and reproductive system, affecting human gender determination and/or differentiation. In present study, we identified five phenotypic females with gonadal dysgenesis associated ovarian tumors. A previous review showed that up to 5% of patients with dysgerminoma are phenotypic females with 46, XY karyotype [4]. Dysgenetic gonads in the presence of Y chromosomal material confer a rising risk of gonadoblastoma [5]. Due to the increased risk of malignant transformation, possibly related to the rise in androgen exposure from puberty onwards [6], prophylactic gonadectomy is recommended at diagnosis.