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Case Report: Clinical and Diagnostic Aspects of Mayer-Rokitansky-Kuster-Hauser Syndrome
IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
UNIFESO Medical School, Teresópolis, Brazil
UNIFESO Medical School, Teresópolis, Brazil
UNIFESO Medical School, Teresópolis, Brazil
UNIFESO Medical School, Teresópolis, Brazil
UNIFESO Medical School, Teresópolis, Brazil
Department of Pediatrics, Medical School, University of São Paulo (USP), São Paulo, Brazil
IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany
Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany
- 1 IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
- 2 UNIFESO Medical School, Teresópolis, Brazil
- 3 UNIFESO Medical School, Teresópolis, Brazil
- 4 UNIFESO Medical School, Teresópolis, Brazil
- 5 UNIFESO Medical School, Teresópolis, Brazil
- 6 UNIFESO Medical School, Teresópolis, Brazil
- 7 Department of Pediatrics, Medical School, University of São Paulo (USP), São Paulo, Brazil
- 8 IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
- 9 IPEMED Medical School/AFYA Educational, Postgraduation in Endocrinology, Rio de Janeiro, Brazil
- 10 Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany
- 11 Medical Clinic in Endocrinology and Diabetology, Schleswig-Flensburg, Germany
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Abstract
Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH) is a rare disease characterized by total or partial vagina agenesis, karyotype 46, XX with normal secondary sexual characters. Still, it is the second leading cause of primary amenorrhea. The absence of obvious signs and symptoms often causes the syndrome to be diagnosed only after puberty. The case presented here highlights exactly this difficulty of early diagnosis, which meets the objective of the study, and is precisely to provide reliable material that facilitates the diagnosis and management of patients with MRKH syndrome.
KeywordsMayer-Rokitansky-Kuster-Hauser SyndromePrimary AmenorrheaGonadal Dysgenesis
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