A case of gonadal dysgenesis or the Ullrich-Turner syndrome with androgenic manifestations.

نویسندگان

  • R D CREERY
  • W G WADE
  • R J YOUNG
چکیده

This syndrome is thought to have been originally described by Ullrich (1930) and Turner (1938), but Meyer (1925) and Baer (1927) have given earlier descriptions of cases of 'ovarian agenesis' presenting with androgenic manifestations. Grumbach, van Wyk and Wilkins (1955), in a thorough review of the subject, have proved the value of sex typing of nuclei in 22 cases, and by basing the same arguments as Russell, Levin and France (1955) on Jost's experimental work have suggested a partial explanation for the aetiology of this syndrome. This report is of a child dying at 7 months, who had the cardinal features of the Ulfrich-Turner syndrome associated with androgenic manifestations. Case Report

برای دانلود 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

Balanced Reciprocal Translocation t(X;1) in a Girl with Tall Stature and Primary Amenorrhea

AbstractChromosomal translocations constitute one of the most important, yet uncommon, causes of primary amenorrhea and gonadal dysgenesis. Although X-autosome translocations are frequently associated with streak gonads and clinical features of the Turner syndrome, the majority of X-autosome carriers may present with a variable phenotype, developmental delay, and recognizable X-linked syndrome ...

متن کامل

Dextrocardia and Hiatal Hernia in a Patient with Turner Syndrome

Turner syndrome is a sex-chromosome disorder occurring in one out of 2500 female births and characterized by growth retardation, gonadal dysgenesis and cardiovascular anomalies. The 45, XO karyotype is the most frequent type of this disease. Herein, we report on a 6-year-old girl with Turner syndrome and 45, XO karyotype presenting with short stature. She had dextrocardia and hiatal hernia. To ...

متن کامل

The Coexistence of Gonadal Dysgenesis With Mayer-rokitansky-küster-hauser Syndrome, and Dandy-Walker Variant

Background: Gonadal dysgenesis, the most common cause of primary amenorrhea, is characterized by absent or underdeveloped ovaries. Although the coexistence of gonadal dysgenesis and Mayer-Rokitansky-Küster-Hauser (MRKH) has been reported, it is still quite infrequent. To the extent that authors searched, just one study reported the association between Rokitansky sequence and Dandy-Walker malfor...

متن کامل

Ullrich-Turner syndrome in an XY female fetus with deletion of the sex-determining portion of the Y chromosome.

Here we describe a fetus in whom a cystic hygroma was detected by ultrasound during the second trimester. Autopsy demonstrated a female fetus with manifestations of Ullrich-Turner syndrome, including gonadal dysgenesis, generalized lymphedema, and preductal aortic coarctation. Surprisingly, the karyotype was 46,XY, with no evidence of mosaicism for a 45,X cell line. Y-DNA hybridization studies ...

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

برای دانلود 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

عنوان ژورنال:
  • Archives of disease in childhood

دوره 31 159  شماره 

صفحات  -

تاریخ انتشار 1956