MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea
Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources. Due to functioning gonads, despite being prese...
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| Format: | Article |
| Language: | English |
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Sri Lanka College of Endocrinologists
2020-06-01
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| Series: | Sri Lanka Journal of Diabetes Endocrinology and Metabolism |
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| Online Access: | https://sjdem.sljol.info/articles/7419 |
| _version_ | 1819089665682046976 |
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| author | Mohammad Moin Shahid |
| author_facet | Mohammad Moin Shahid |
| author_sort | Mohammad Moin Shahid |
| collection | DOAJ |
| description | Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources. Due to functioning gonads, despite being present with primary amenorrhoea, patients develop secondary sexual characteristics. Turner syndrome is a disorder characterized by the absence of all or part of a normal second sex chromosome, sometimes with mosaicism of 45X with another cell line. Patients are phenotypically female present with short stature, often absent secondary sexual characteristics due to gonadal dysgenesis. Co-existence of both syndromes is very rare. We describe here a 16-year old girl present with primary amenorrhoea, absenting secondary sexual characteristics and short stature. |
| first_indexed | 2024-12-21T22:11:33Z |
| format | Article |
| id | doaj.art-2174ced74cf04d48abd78884300dd826 |
| institution | Directory Open Access Journal |
| issn | 2012-998X |
| language | English |
| last_indexed | 2024-12-21T22:11:33Z |
| publishDate | 2020-06-01 |
| publisher | Sri Lanka College of Endocrinologists |
| record_format | Article |
| series | Sri Lanka Journal of Diabetes Endocrinology and Metabolism |
| spelling | doaj.art-2174ced74cf04d48abd78884300dd8262022-12-21T18:48:33ZengSri Lanka College of EndocrinologistsSri Lanka Journal of Diabetes Endocrinology and Metabolism2012-998X2020-06-01101303310.4038/sjdem.v10i1.74195634MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoeaMohammad Moin Shahid0Ad-din women's Medical college, Dhaka :Mayer-Rokitansky-Haüser-Kuster (MRHK) or Mullerian agenesis syndrome is characterized by aplasia or hypoplasia of uterus and upper 2/3 of the vagina. Patients usually have normal gonadal function as both ovaries develop from different embryonic sources. Due to functioning gonads, despite being present with primary amenorrhoea, patients develop secondary sexual characteristics. Turner syndrome is a disorder characterized by the absence of all or part of a normal second sex chromosome, sometimes with mosaicism of 45X with another cell line. Patients are phenotypically female present with short stature, often absent secondary sexual characteristics due to gonadal dysgenesis. Co-existence of both syndromes is very rare. We describe here a 16-year old girl present with primary amenorrhoea, absenting secondary sexual characteristics and short stature.https://sjdem.sljol.info/articles/7419müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics |
| spellingShingle | Mohammad Moin Shahid MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea Sri Lanka Journal of Diabetes Endocrinology and Metabolism müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics |
| title | MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea |
| title_full | MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea |
| title_fullStr | MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea |
| title_full_unstemmed | MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea |
| title_short | MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea |
| title_sort | mrkh syndrome and turner syndrome co existing in a patient with primary amenorrhoea |
| topic | müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics |
| url | https://sjdem.sljol.info/articles/7419 |
| work_keys_str_mv | AT mohammadmoinshahid mrkhsyndromeandturnersyndromecoexistinginapatientwithprimaryamenorrhoea |