Swyer Syndrome in a Woman with Pure 46, XY Gonadal Dysgenesis, A Rare Disorder, Late Presentation: Case Report

ثبت نشده
چکیده

*Corresponding Author: Andreas Chrysostomou, P.O Box 29699, Sandringham, 2131, Johannesburg, Gauteng, RSA, Email: [email protected] A 22-year-old nulliparous woman was consulted for primary amenorrhoea at the Gynaecological out-patient department of the tertiary academic hospital. The initial referral diagnosis was testicular feminization syndrome. On physical examination, the patient was phenotypically female (height: 187cm; weight: 82kg) with normal secondary sexual characteristics (pubic and axillary hair present, breast development, stage iv tunner system). Normal external genitalia with normal clitoris. On speculum examination normal vagina length, cervix appeared normal and pap smear was normal.

برای دانلود رایگان متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Swyer syndrome in a woman with pure 46, XY gonadal dysgenesis and a hypoplastic uterus.

Swyer syndrome or pure 46, XY gonadal dysgenesis is a condition in which the individuals have female appearance. They classically present as sexually infantile phenotypic females with primary amenorrhoea. People with this disorder have female external genitalia but the uterus and fallopian tubes are underdeveloped. However, they do not have functional gonads (ovaries or testes). Instead, they h...

متن کامل

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (swyer syndrome): a case report

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular tissue. The condition usually first becomes apparent in adolescence with delayed puberty and primary amenorrhea d...

متن کامل

Dysgerminoma in three patients with Swyer syndrome

BACKGROUND Dysgerminoma is the most common malignant germ cell tumor of the ovary. This malignancy can be associated with pure gonadal dysgenesis or Swyer syndrome, mixed gonadal dysgenesis and partial gonadal dysgenesis. CASE PRESENTATION Dysgerminoma developed in 3 phenotypic female patients with 46 XY pure gonadal dysgenesis. All patients presented first with abdominopelvic mass. Laparatom...

متن کامل

Mixed Germ Cell Tumour in a Case of Pure Gonadal Dysgenesis (Swyer Syndrome) - A Case Report

Swyer syndrome or pure gonadal dysgenesis 46, XY is a medical condition associated with 46 XY karyotype and primary amenorrhea in a phenotypic female. In this syndrome, there is an abnormality in testicular differentiation. Patients with disorders in sexual differentiation have an increased risk for development of genital malignancies. A 14-year-old female admitted with abdominal pain was diagn...

متن کامل

A rare case of 46,XX gonadal dysgenesis and Mayer-Rokitansky-Kuster-Hauser syndrome

46,XX gonadal dysgenesis is a rare genetically heterogeneous disorder characterized by underdeveloped ovaries with consequent, impuberism, primary amenorrhea, and hypergonadotropic hypogonadism. Mullerian agenesis or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by congenital aplasia of the uterus and the upper part (2/3) of the vagina in a woman with normal development of sec...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2017