A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia

A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia

<p>A 26 year old girl, who is a product of a consanguineous marriage, presented with hypertension and hypokalaemia. She had a history of primary amenorrhoea with absent secondary sexual characteristics. Laboratory investigations revealed low levels of serum cortisol and low 17hydroxyprogestero...

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Bibliographic Details
Main Authors: W. C. K. Jayawardena, C. N. Antonypillai
Format: Article
Language:English
Published: Sri Lanka College of Endocrinologists 2010-07-01
Series:Sri Lanka Journal of Diabetes Endocrinology and Metabolism
Subjects:
congenital adrenal hyperplasia (cah), 17 α hydroxylase /17,20-lyase deficiency (17ohd)
Online Access:https://sjdem.sljol.info/articles/7272
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spelling doaj-3ff95c959d894c3eb4f17271eb592e0e2021-07-14T08:28:11ZengSri Lanka College of EndocrinologistsSri Lanka Journal of Diabetes Endocrinology and Metabolism2012-998X2010-07-0151384110.4038/sjdem.v5i1.72725521A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasiaW. C. K. Jayawardena0C. N. Antonypillai1Teaching Hospital, KandyTeaching Hospital, Kandy<p>A 26 year old girl, who is a product of a consanguineous marriage, presented with hypertension and hypokalaemia. She had a history of primary amenorrhoea with absent secondary sexual characteristics. Laboratory investigations revealed low levels of serum cortisol and low 17hydroxyprogesterone levels with high ACTH levels. Furthermore her adrenal androgens and oestradiol were low with elevated gonadotrophins. Chromosomal analysis revealed a male karyotype of 46, XY. All these clinical and laboratory data were consistent with the diagnosis of congenital adrenal hyperplasia (CAH) due to 17 alpha hydroxylase deficiency in a genotypic male. She was started on steroid replacement therapy while monitoring blood pressure, serum potassium levels and ACTH levels.</p><p>Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2015; 5: 38-41</p>https://sjdem.sljol.info/articles/7272congenital adrenal hyperplasia (cah), 17 α hydroxylase /17,20-lyase deficiency (17ohd)
collection DOAJ
language English
format Article
sources DOAJ
author W. C. K. Jayawardena
C. N. Antonypillai
spellingShingle W. C. K. Jayawardena
C. N. Antonypillai
A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
Sri Lanka Journal of Diabetes Endocrinology and Metabolism
congenital adrenal hyperplasia (cah), 17 α hydroxylase /17,20-lyase deficiency (17ohd)
author_facet W. C. K. Jayawardena
C. N. Antonypillai
author_sort W. C. K. Jayawardena
title A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
title_short A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
title_full A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
title_fullStr A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
title_full_unstemmed A patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
title_sort patient with primary amenorrhoea and hypertension: 17 á hydroxylase deficiency – a rare cause of congenital adrenal hyperplasia
publisher Sri Lanka College of Endocrinologists
series Sri Lanka Journal of Diabetes Endocrinology and Metabolism
issn 2012-998X
publishDate 2010-07-01
description <p>A 26 year old girl, who is a product of a consanguineous marriage, presented with hypertension and hypokalaemia. She had a history of primary amenorrhoea with absent secondary sexual characteristics. Laboratory investigations revealed low levels of serum cortisol and low 17hydroxyprogesterone levels with high ACTH levels. Furthermore her adrenal androgens and oestradiol were low with elevated gonadotrophins. Chromosomal analysis revealed a male karyotype of 46, XY. All these clinical and laboratory data were consistent with the diagnosis of congenital adrenal hyperplasia (CAH) due to 17 alpha hydroxylase deficiency in a genotypic male. She was started on steroid replacement therapy while monitoring blood pressure, serum potassium levels and ACTH levels.</p><p>Sri Lanka Journal of Diabetes, Endocrinology and Metabolism 2015; 5: 38-41</p>
topic congenital adrenal hyperplasia (cah), 17 α hydroxylase /17,20-lyase deficiency (17ohd)
url https://sjdem.sljol.info/articles/7272
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