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Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening

INTRODUCTION: Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles. PATIENTS’ REPORT: We present two female newborns with atypical screening results bor...

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Autores principales: Banaszak-Ziemska, Magdalena, Małecka, Elżbieta, Łacna, Katarzyna, Ginalska-Malinowska, Maria, Niedziela, Marek
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226346/
https://www.ncbi.nlm.nih.gov/pubmed/35114771
http://dx.doi.org/10.5114/pedm.2021.109123
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author Banaszak-Ziemska, Magdalena
Małecka, Elżbieta
Łacna, Katarzyna
Ginalska-Malinowska, Maria
Niedziela, Marek
author_facet Banaszak-Ziemska, Magdalena
Małecka, Elżbieta
Łacna, Katarzyna
Ginalska-Malinowska, Maria
Niedziela, Marek
author_sort Banaszak-Ziemska, Magdalena
collection PubMed
description INTRODUCTION: Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles. PATIENTS’ REPORT: We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene. DISCUSSION AND CONCLUSION: Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns’ genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis.
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spelling pubmed-102263462023-06-05 Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening Banaszak-Ziemska, Magdalena Małecka, Elżbieta Łacna, Katarzyna Ginalska-Malinowska, Maria Niedziela, Marek Pediatr Endocrinol Diabetes Metab Case report | Opis przypadku INTRODUCTION: Congenital adrenal hyperplasia (CAH) before the introducing a newborn screening was initially diagnosed based on clinical symptoms or positive family history and thereafter confirmed hormonal profiles. PATIENTS’ REPORT: We present two female newborns with atypical screening results born shortly after the introduction of neonatal screening for congenital adrenal hyperplasia in the Wielkopolska region. Female patients 1 and 2 were both born at term and discharged from neonatal departments without any suspicion of disease. After performing complete neonatal screening for CAH, girls were admitted to the endocrine department for further investigations. In both cases, the girls did not exhibit characteristic symptoms of the disease. Using the Synacthen test, we observed an insufficient increase in cortisol and an abnormal increase in 17-OHP concentrations. The 24-hour urinary steroid profile analyzed by GC-MS confirmed the diagnosis. In both cases, treatment with hydrocortisone and fludrocortisone was initiated. Genetic evaluation confirmed mutations in the CYP21A2 gene. DISCUSSION AND CONCLUSION: Newborn screening for CAH is useful for revealing a moderate form of CAH and indicates the need to start treatment in cases without typical signs of disease to prevent further virilization and the generation of a GnRH-independent precocious puberty. For nonobvious screening results, clinical information, including any data on virilization, is extremely helpful. Therefore, a careful assessment of newborns’ genitalia in neonatal departments is important. The screening laboratory should be informed about any abnormalities to perform a complete screening immediately decreasing significantly the time between taking the paper sample and the final diagnosis. Termedia Publishing House 2021-12-30 2021-12 /pmc/articles/PMC10226346/ /pubmed/35114771 http://dx.doi.org/10.5114/pedm.2021.109123 Text en Copyright © Polish Society of Pediatric Endocrinology and Diabetes https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs (CC BY-NC-ND) (https://creativecommons.org/licenses/by-nc-nd/4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ), allowing third parties to download and share its works but not commercially purposes or to create derivative works.
spellingShingle Case report | Opis przypadku
Banaszak-Ziemska, Magdalena
Małecka, Elżbieta
Łacna, Katarzyna
Ginalska-Malinowska, Maria
Niedziela, Marek
Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title_full Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title_fullStr Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title_full_unstemmed Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title_short Moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
title_sort moderate congenital adrenal hyperplasia in two girls diagnosed by newborn screening
topic Case report | Opis przypadku
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10226346/
https://www.ncbi.nlm.nih.gov/pubmed/35114771
http://dx.doi.org/10.5114/pedm.2021.109123
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