Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation

Karimian, Negar; Ghadakzadeh, Saber; Eshraghi, Mahdi

doi:10.1016/j.fertnstert.2009.09.062

Cited by 8 publications

(7 citation statements)

References 15 publications

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“…Usually patients show elevated gonadotrophins, normal female levels of androgens and low levels of estrogens, with female external genitalia, small uterus, fallopian tubes and streak gonads. Minimal breast enlargement reflects peripheral aromatization of androgens 7 . Menstrual function suggests tumor development with estrogen production in the streak gonad, which can delay the diagnosis 8,9 …”

Section: Discussionmentioning

confidence: 99%

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Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome

Moreira

Silva

Ferreira

et al. 2011

J of Obstet and Gynaecol

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A 16-year-old girl was referred to our center by her general physician because of primary amenorrhea. Her family history revealed an older sister with Swyer syndrome and gonadectomy at another institution. After thorough evaluation she received the same diagnosis, but unlike her sister, she refused gonadectomy. Four years later she presented with abdominal discomfort and a complex pelvic mass. She underwent exploratory laparotomy and histological examination revealed bilateral dysgerminoma without capsular invasion. The tumor was classified as stage IB. After surgery she underwent adjuvant chemotherapy with three cycles of BEP (bleomycin + etoposide + cisplatin). The present case emphasizes the importance of familial screening with a karyotype study in pure gonadal dysgenesis to prevent gonadal malignancy.

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Section: Discussionmentioning

confidence: 99%

“…Minimal breast enlargement reflects peripheral aromatization of androgens. 7 Menstrual function suggests tumor development with estrogen production in the streak gonad, which can delay the diagnosis. 8,9 The genetic causes underlying 46,XY gonadal dysgenesis can be complex.…”

Section: Discussionmentioning

confidence: 99%

Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome

Moreira

Silva

Ferreira

et al. 2011

J of Obstet and Gynaecol

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“…It is accepted that defects in the androgen receptor gene prevent the normal development of internal and external male structures. The end organ resistance to androgens has been designated as AIS [4,7,11,12]. Available evidence has documented the risk of gonadoblastoma is high in undescended testis.…”

Section: Case Descriptionmentioning

confidence: 99%

“…Hence, inguinal gonads were removed surgically a month after the karyotyping was reported in JIPMER. Subjects were properly evaluated by a urologist [14], psychologist [15], psychiatrist and Genetic counselling was given [12]. Psychological counselling was given to the subject and the family because it would cause emotional disturbances after knowing karyotype.…”

Section: Case Descriptionmentioning

confidence: 99%

Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity

Ramamurthy¹,

Karuppusamy²

2018

IJAR

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Androgen insensitivity syndrome (AIS), is a X-linked disorder characterized by resistance to androgen caused by mutation of androgen receptor gene in which XY karyotype individuals exhibit female phenotype.AIS is characterised by evidence of feminization (under masculinization) of the external genitalia at birth, abnormal secondary sexual development at puberty, and infertility in individuals with 46 XY karyotype.We are presenting here a familial case of complete androgen insensitivity syndrome in south Indian Population. 46 XY karyotype was found in two subjects who were cousin sisters with female phenotype,who presented with primary amenorrhoea. Comet assay was done, which showed results comparable with normal males. In both girls' inguinal gonads was present which was removed and hormonal therapy with estrogen was given to prevent osteoporosis. Androgen insensitivity syndrome can be inherited as an X linked disorder as evidenced by previous studies.

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“…She has been evaluated by a psychiatrist and has a female gender identity. We discussed the option of pregnancy (in vitro fertilization of donor egg by donor sperm, followed by embryo transfer) [1][2][3].…”

Section: Casementioning

confidence: 99%

Absent Visualization of a Hypoplastic Uterus in a 16 Year Old with Complete 46 XY Gonadal Dysgenesis (Swyer Syndrome)

Granados¹,

Phulwani²

2013

Endocrinol Metab Synd

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Case:A 16-year-old female presented with primary amenorrhea, absent breast development, Tanner V pubic hair, sparse axillary hair and female appearing external genitalia without clitoromegaly. Further workup revealed: 46 XY karyotype with detectable SRY (sex-determining region of the Y chromosome), elevated follicle-stimulating hormone and luteinizing hormone, testosterone and androstenedione in the female range, normal dehydrotestosterone. Estrogen, estrone and ultra sensitive estradiol were in the prepubertal range. HCG stimulation did not result in an increase in testosterone levels, and the inhibin B level was undetectable; suggesting absent testicular function. Anti-Mullerian hormone level was <0.1. On trans-abdominal pelvic ultrasound, no ovaries, uterus or gonads were visualized. After the initiation of hormonal replacement therapy with an estrogen patch, MRI of the pelvis revealed a hypoplastic uterus and no definitive ovaries. Laparoscopic bilateral gonadectomy was performed. The pathology report showed some fallopian tissue on the left gonad with cystic changes. On the right gonad there was some ovarian stromal tissue without follicles. There was no evidence of gonadoblastoma. Summary and Conclusion:Swyer syndrome with XY complete gonadal dysgenesis may present with absent genitalia and an "absent" uterus on pelvic ultrasound. However, a uterus is in fact present and may be visualized on MRI, particularly after treatment with estrogen. It is important to correctly diagnose these patients because of the reported increase of gonadoblastoma. In addition they have the option of pregnancy (in vitro fertilization of donor egg by donor sperm, followed by embryo transfer).

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Swyer syndrome in a woman with pure 46,XY gonadal dysgenesis and a hypoplastic uterus: a rare presentation

Cited by 8 publications

References 15 publications

Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome

Bilateral dysgerminoma in a patient with a previous diagnosis of Swyer syndrome

Androgen Insensitivity Syndrome Among Cousin Sisters- A Rare Entity

Absent Visualization of a Hypoplastic Uterus in a 16 Year Old with Complete 46 XY Gonadal Dysgenesis (Swyer Syndrome)

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