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General Physical
Published in Keith Hopcroft, Vincent Forte, Symptom Sorter, 2020
RARE other ovarian problems (e.g. pure dysgenesis, autoimmune disease)hypothyroidism if autoimmune (otherwise associated with early puberty)pure gonadal dysgenesismaldescent of the testes (rare nowadays: usually detected early)trauma, infection and granulomas of hypothalamus/pituitary
Third Party Reproduction in Recurrent Pregnancy Loss
Published in Howard J.A. Carp, Recurrent Pregnancy Loss, 2020
Gautam Nand Allahbadia, Rubina Merchant, Akanksha Allahbadia Gupta, A.H. Maham
Oocyte donation may be indicated in: (i) carriers of genetic disorders, for example, 46, XY pure gonadal dysgenesis, Turner syndrome (45, XO), (ii) repeated IVF failure with autologous oocytes, (iii) advanced maternal age, and (iv) contraindications for spontaneous or induced ovulation, such as those with von Willebrand disease or other major bleeding disorders [23]. Of these, advanced maternal age is the major indication in RPL. In addition, women of advanced maternal age with low AMH levels as described above may benefit from oocyte donation. There is also an indication in women who repeatedly lose aneuploid embryos and in whom PGT-A fails to find euploid embryos for replacement.
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
Unexpected diagnosis of stage IIA dysgerminoma in streak gonad in a patient with Swyer syndrome: a case report
Published in Gynecological Endocrinology, 2018
Namiko Yada-Hashimoto, Hiroko Komura, Shigenori Nagata, Chiaki Kubo, Masami Fujita, Shoji Kamiura
Pure gonadal dysgenesis can occur in patients with normal male (46,XY) or female (46,XX) chromosomal complements. Swyer syndrome, also known as 46,XY pure gonadal dysgenesis, is one of the Y-chromosome-related DSD. Patients with XY gonadal dysgenesis are at a high risk of gonadoblastoma and associated malignant germ cell tumor with advancing age [2]. Huang et al. reported that Swyer syndrome carried the highest tumor presence and malignancy risk in 292 patients with Y-chromosome-related DSD [6].
POI after chemotherapy and bone marrow transplant may mimic disorders of sexual differentiation – a case report of a patient with primary amenorrhea and 46, XY karyotype
Published in Gynecological Endocrinology, 2020
Jagoda Kruszewska, Sandra Krzywdzińska, Monika Grymowicz, Roman Smolarczyk, Blazej Meczekalski
In tertiary centers, the percentage of 46, XY karyotype in females with primary amenorrhea, either with pure gonadal dysgenesis or complete androgen insufficiency syndrome (CAIS) may reach 3.4–6.8% [3,4]. Despite the rarity, those rare conditions should be excluded due to increased risk of tumors such as dysgerminoma or gonadoblastoma.