نتایج جستجو برای: 46 xy female
تعداد نتایج: 351927 فیلتر نتایج به سال:
Steroidogenic factor 1 (NR5A1, SF-1, Ad4BP) is a transcriptional regulator of genes involved in adrenal and gonadal development and function. Mutations in NR5A1 have been among the most frequently identified genetic causes of gonadal development disorders and are associated with a wide phenotypic spectrum. In 46,XY individuals, NR5A1-related phenotypes may range from disorders of sex developmen...
A patient with a 46,XY chromosome constitution showed the following main characteristics: eunuchoidal body habitus, lack of secondary sexual development, normal female external genitalia with absence of vagina, no gonadal structures, and complete lack of internal genitalia except for rudimentary ductal structures defined by histological examination. Her condition is clearly different from that ...
SIR,-In a recent review de Grouchy 1 compiles the following karyotypes described in true hermaphroditism: 46 XX, 46 XY, 46 XX/46 XY, 45 XO/46 XY, 46 XX/47 XXY, 46 XX/47 XXX, 46 XX/46 XY/45 XO, 46 XX/47 XXY/ 49 XXYYY, and 45 XO/46 X isoY/47 XY isoY. We have studied the chromosomes of a true hermaphrodite with a new mosaicism, 46 XX/46 XY/47 XXY, which might throw some light on the possible multi...
Eight cases of 45 XO/46 XY mosaicism are described: four were phenotypic males. Karyotyping should be performed more frequently in short boys as growth hormone treatment and testicular biopsy, to screen for carcinoma in situ, are likely to be beneficial.
BACKGROUND The aim of this study is to review and present the clinical features and process of evaluation and treatment for OT-DSD in a single center in recent years in China. METHODS Sixteen patients with OT-DSD during the past 4 years underwent the evaluation and treatment in a single center. The clinical characteristics and outcomes of surgery were analyzed. RESULTS The surgical age rang...
We present measurements and analysis of the longitudinal timing jitter of a Beijing Electron Positron Collider (BEPCII) linear accelerator electron gun. We simulated the longitudinal jitter effect of the gun using PARMELA to evaluate beam performance, including: beam profile, average energy, energy spread, and XY emittances. The maximum percentage difference of the beam parameters is calculated...
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...
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