Pregnancy in patient with Swyer syndrome

Tulić, Ivan; Tulić, Lidija; Micić, Jelena

doi:10.1016/j.fertnstert.2010.12.012

Cited by 24 publications

(23 citation statements)

References 10 publications

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“…Whereas the majority of the SRY mutations are de novo events, there are only a few reports of pedigrees with familial transmission of the disorder including rare familial cases of 46,XY gonadal dysgenesis for which the father has mosaicism for an SRY mutation (6)(7)(8)(9). In rare instances achievement of fertility through oocyte donation is reported (10,11).…”

mentioning

confidence: 99%

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

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Kunz

Miny

et al. 2011

Fertility and Sterility

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mentioning

confidence: 99%

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

Filges

Kunz

Miny

et al. 2011

Fertility and Sterility

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“…In the published literature there are many cases of patients with swyer syndrome giving live birth. [8][9][10][11][12][13][14][15][16][17]…”

Section: Discussionmentioning

confidence: 99%

46,XY Gonadal Dysgenesis (Swyer Syndrome): A Case Report with Late Diagnosis

Sancar¹,

Yıldırım²,

Mammadova³

et al. 2018

TJRMS

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The objective of this article is presenting the management of a case with late diagnosis of swyer syndrome and to evaluate the fertility request. A 31years old woman, married for 3years, G0P0 was diagnosed with pituitary insufficiency when she was admitted to the endocrinology clinic for hypoglycemia. The patient was consulted to the gynecology polyclinic with the complaints of not menstruating at the age of 13 and she was started hormone replacement therapy(HRT) that she is still using. No further analysis was performed for primer amenorrhea. After analysis; the patient was diagnosed with swyer syndrome and planned for gonadectomy. Bilateral salpengectomy and gonadectomy were performed. The patient was recommended to continue HRT. Patient with pregnancy request was explained that there were cases of healthy births with oocyte donation in the literature. K Ke ey yw wo or rd ds s: : Late diagnosis; swyer syndrome; 46,XY gonadal dysgenesis Ö ÖZ ZE ET T Bu makalede geç tanı almış swyer sendromlu olgunun yönetimi ve fertilite isteminin değerlendirilmesi sunulmuştur. 31 yaşında, 3 yıllık evli, G0P0, ek hastalığı olmayan hasta hipoglisemik atak ile endokrinoloji polikliniğine başvurduğunda hastaya hipofizer yetmezlik tanısı kondu. Hastanın jinekolojik öyküsünde; 13 yaşında adet görememe şikayetiyle jinekoloji polikliniğine başvurduğu ve hala kullanmakta olduğu hormon replasman tedavisi başlandığı, primer amenoreye yönelik tahlil yapılmadığı öğrenildi. Hastaya yapılan tetkikler sonucunda swyer sendromu tanısı kondu ve gonadektomi planlandı. Bilateral laparoskopik salpenjektomi ve gonadektomi uygulandı. Hastanın hormon replasman tedavisine devamı önerildi. Gebelik istemi olan hastaya literatürde oosit donasyonu ile sağlıklı doğum ile sonuçlanmış örnekler olduğu anlatıldı.

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“…Patients with Swyer syndrome can get pregnant through a combination of egg donation and the in vitro method. Some cases of women with Swyer syndrome who gave birth to a healthy child have been reported [22,23,24].…”

Section: Discussionmentioning

confidence: 99%

Dysgerminoma and gonadoblastoma in the course of Swyer syndrome

Milewicz¹,

Mrozińska²,

Szczepański³

et al. 2016

pjp

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We present a case of a woman with primary amenorrhea. Ultrasound imaging showed a uterus of normal size but bands of connective tissues at the site of ovaries. A genetic test was done which revealed the XY karyotype. Swyer syndrome was diagnosed. The patient did not report for the follow-up visits. Three years later, the woman reported back because of increasing abdominal circumference. The patient underwent an operation. Radical hysterectomy was performed. Histopathological examination showed dysgerminoma and gonadoblastoma on the left gonad and dysgerminoma on the right one. This case report presents the natural history of Swyer syndrome.

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Pregnancy in patient with Swyer syndrome

Cited by 24 publications

References 10 publications

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis

46,XY Gonadal Dysgenesis (Swyer Syndrome): A Case Report with Late Diagnosis

Dysgerminoma and gonadoblastoma in the course of Swyer syndrome

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