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 aplas...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Wolters Kluwer Medknow Publications,
2016-01-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | 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 secondary sexual characteristics and a normal 46,XX karyotype. The phenotypic manifestations of MRKH syndrome may sometimes overlap with various other syndromes and require accurate delineation. The coexistence of both these disorders is extremely rare. Here, we report a case of 46,XX gonadal dysgenesis and MRKH syndrome with anatomically dispersed congenital anomalies unique among reported cases. |
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| Item Description: | 0974-1208 1998-4766 10.4103/0974-1208.197694 |