MRKH syndrome and Turner syndrome co-existing in a patient with primary amenorrhoea

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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Main Author: Mohammad Moin Shahid
Format: Article
Language:English
Published: Sri Lanka College of Endocrinologists 2020-06-01
Series:Sri Lanka Journal of Diabetes Endocrinology and Metabolism
Subjects:
müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics
Online Access:https://sjdem.sljol.info/articles/7419
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spelling doaj-2174ced74cf04d48abd78884300dd8262021-07-14T08:28:13ZengSri 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
collection DOAJ
language English
format Article
sources DOAJ
author Mohammad Moin Shahid
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
author_facet Mohammad Moin Shahid
author_sort Mohammad Moin Shahid
title 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_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_sort mrkh syndrome and turner syndrome co-existing in a patient with primary amenorrhoea
publisher Sri Lanka College of Endocrinologists
series Sri Lanka Journal of Diabetes Endocrinology and Metabolism
issn 2012-998X
publishDate 2020-06-01
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.
topic müllerian agenesis, gonadal dysgenesis, primary amenorrhoea, secondary sexual characteristics
url https://sjdem.sljol.info/articles/7419
work_keys_str_mv AT mohammadmoinshahid mrkhsyndromeandturnersyndromecoexistinginapatientwithprimaryamenorrhoea
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