An XX female with sexual infantilism, absent gonads, and lack of Mullerian ducts.
نویسندگان
چکیده
منابع مشابه
Sexual differentiation of germ cells in XX mouse gonads occurs in an anterior-to-posterior wave.
Differentiation of mouse embryonic germ cells as male or female is dependent on the somatic environment of the gonad rather than the sex chromosome constitution of the germ cell. However, little is known about the initiation of germ cell sexual differentiation. Here, we traced the initiation of germ cell sexual differentiation in XX gonads using the Stra8 gene, which we demonstrate is an early ...
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Congenital hypopituitarism is a relatively rare condition, as is congenital idiocy. For this reason, their simultaneous presence in the same patient can hardly be attributed to chance. The occurrence of both of these clinical features in two patients stimulated this report. It is hoped that the publication of cases, exhibiting clinical combinations of this type, may eventually allow for a more ...
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Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenor...
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A 13 year old female presented with ambiguous external genitalia, right inguinal ovotestis, left ovary, apparently normal Mullerian system, and absent Wolffian system. Cultured lymphocytes showed a 46,XX/46,XY karyotype. Histopathology of the gonads confirmed true hermaphroditism. The presence of two genetically different erythrocyte populations was observed. The findings suggested that the pat...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1976
ISSN: 1468-6244
DOI: 10.1136/jmg.13.1.68