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Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report

Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency. The resulting hormonal imbalances lead to increased 17-hydroxyprogesterone and androgens levels, at the expense of decreased concentratio...

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Autores principales: Cicalini, Ilaria, Tumini, Stefano, Guidone, Paola Irma, Pieragostino, Damiana, Zucchelli, Mirco, Franchi, Sara, Lisi, Gabriele, Lelli Chiesa, Pierluigi, Stuppia, Liborio, De Laurenzi, Vincenzo, Rossi, Claudia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950672/
https://www.ncbi.nlm.nih.gov/pubmed/31766536
http://dx.doi.org/10.3390/metabo9120284
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author Cicalini, Ilaria
Tumini, Stefano
Guidone, Paola Irma
Pieragostino, Damiana
Zucchelli, Mirco
Franchi, Sara
Lisi, Gabriele
Lelli Chiesa, Pierluigi
Stuppia, Liborio
De Laurenzi, Vincenzo
Rossi, Claudia
author_facet Cicalini, Ilaria
Tumini, Stefano
Guidone, Paola Irma
Pieragostino, Damiana
Zucchelli, Mirco
Franchi, Sara
Lisi, Gabriele
Lelli Chiesa, Pierluigi
Stuppia, Liborio
De Laurenzi, Vincenzo
Rossi, Claudia
author_sort Cicalini, Ilaria
collection PubMed
description Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency. The resulting hormonal imbalances lead to increased 17-hydroxyprogesterone and androgens levels, at the expense of decreased concentrations of glucocorticoids and, in some cases, of mineralocorticoids. A variety of clinical presentations accompany a range of severities, which are described as different forms of CAH, and are the result of these hormonal imbalances. The incidence of CAH worldwide is approximately 1 in 15,000 live births, and is population-dependent; thus, its inclusion in neonatal screening tests is widely discussed. Diagnosis of CAH is based on the quantification of 17-hydroxyprogesterone, usually by immunoassay, which has low specificity and high false-positive rates, resulting in a relatively high demand for a second-tier confirmation test. We report a case of a newborn recognized as female at birth, but showing ambiguous genitalia and other CAH clinical features, including hypernatremia, in the first days of life. In addition to the classical assays, liquid chromatography–tandem mass spectrometry was used to determine the serum steroid profile, allowing for the accurate and simultaneous quantification of seven steroids in the same analysis. Such an application immediately revealed an alteration in the levels of specific steroids related to CAH, leading to an early intervention by hormone replacement therapy. Subsequently, the diagnosis of classic CAH due to 21-hydroxylase deficiency was further confirmed by molecular testing.
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spelling pubmed-69506722020-01-16 Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report Cicalini, Ilaria Tumini, Stefano Guidone, Paola Irma Pieragostino, Damiana Zucchelli, Mirco Franchi, Sara Lisi, Gabriele Lelli Chiesa, Pierluigi Stuppia, Liborio De Laurenzi, Vincenzo Rossi, Claudia Metabolites Case Report Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency. The resulting hormonal imbalances lead to increased 17-hydroxyprogesterone and androgens levels, at the expense of decreased concentrations of glucocorticoids and, in some cases, of mineralocorticoids. A variety of clinical presentations accompany a range of severities, which are described as different forms of CAH, and are the result of these hormonal imbalances. The incidence of CAH worldwide is approximately 1 in 15,000 live births, and is population-dependent; thus, its inclusion in neonatal screening tests is widely discussed. Diagnosis of CAH is based on the quantification of 17-hydroxyprogesterone, usually by immunoassay, which has low specificity and high false-positive rates, resulting in a relatively high demand for a second-tier confirmation test. We report a case of a newborn recognized as female at birth, but showing ambiguous genitalia and other CAH clinical features, including hypernatremia, in the first days of life. In addition to the classical assays, liquid chromatography–tandem mass spectrometry was used to determine the serum steroid profile, allowing for the accurate and simultaneous quantification of seven steroids in the same analysis. Such an application immediately revealed an alteration in the levels of specific steroids related to CAH, leading to an early intervention by hormone replacement therapy. Subsequently, the diagnosis of classic CAH due to 21-hydroxylase deficiency was further confirmed by molecular testing. MDPI 2019-11-21 /pmc/articles/PMC6950672/ /pubmed/31766536 http://dx.doi.org/10.3390/metabo9120284 Text en © 2019 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Cicalini, Ilaria
Tumini, Stefano
Guidone, Paola Irma
Pieragostino, Damiana
Zucchelli, Mirco
Franchi, Sara
Lisi, Gabriele
Lelli Chiesa, Pierluigi
Stuppia, Liborio
De Laurenzi, Vincenzo
Rossi, Claudia
Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title_full Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title_fullStr Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title_full_unstemmed Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title_short Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report
title_sort serum steroid profiling by liquid chromatography–tandem mass spectrometry for the rapid confirmation and early treatment of congenital adrenal hyperplasia: a neonatal case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950672/
https://www.ncbi.nlm.nih.gov/pubmed/31766536
http://dx.doi.org/10.3390/metabo9120284
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