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Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance...

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Autores principales: Flint, Jennifer L., Jacobson, Jill D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583052/
https://www.ncbi.nlm.nih.gov/pubmed/23476826
http://dx.doi.org/10.1155/2013/393584
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author Flint, Jennifer L.
Jacobson, Jill D.
author_facet Flint, Jennifer L.
Jacobson, Jill D.
author_sort Flint, Jennifer L.
collection PubMed
description We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting.
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spelling pubmed-35830522013-03-09 Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia Flint, Jennifer L. Jacobson, Jill D. Case Rep Endocrinol Case Report We report on a patient with genetically confirmed adrenal hypoplasia congenita (AHC) whose presentation and laboratory abnormalities were consistent with the more common condition, congenital adrenal hyperplasia (CAH). The patient presented with failure to thrive and salt wasting. General appearance showed marked hyperpigmentation and normal male genitalia. He displayed mildly elevated 17-hydroxyprogesterone and markedly elevated 11-deoxycortisol levels at baseline and with ACTH stimulation testing. Results were consistent with 11β-hydroxylase deficiency. He required glucocorticoids and high doses of mineralocorticoids. The marked elevation in 11-deoxycortisol directed our clinical reasoning away from a hypoplastic condition and towards a hyperplasic adrenal condition. Sequencing of the DAX1 gene (named for dosage-sensitive sex reversal (DSS) locus and the AHC locus on the X chromosome) revealed a missense mutation. A review of the literature revealed that elevated 11-deoxycortisol levels have been noted in kindreds with DAX1 mutations, but only when measured very early in life. A mouse model has recently been described that displays elevated 11-deoxycorticosterone levels and evidence for hyperplasia of the zona glomerulosa of the adrenal gland. We conclude that DAX1 testing may be considered in patients with laboratory evidence of 11β-hydroxylase deficiency, especially in those with severe salt wasting. Hindawi Publishing Corporation 2013 2013-02-12 /pmc/articles/PMC3583052/ /pubmed/23476826 http://dx.doi.org/10.1155/2013/393584 Text en Copyright © 2013 J. L. Flint and J. D. Jacobson. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Flint, Jennifer L.
Jacobson, Jill D.
Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title_full Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title_fullStr Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title_full_unstemmed Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title_short Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
title_sort adrenal hypoplasia congenita presenting as congenital adrenal hyperplasia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3583052/
https://www.ncbi.nlm.nih.gov/pubmed/23476826
http://dx.doi.org/10.1155/2013/393584
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