Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia
Joint Authors
Jacobson, Jill D.
Flint, Jennifer L.
Source
Issue
Vol. 2013, Issue 2013 (31 Dec. 2013), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2013-02-12
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Flint, Jennifer L.& Jacobson, Jill D.. 2013. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia. Case Reports in Endocrinology،Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-468614
Modern Language Association (MLA)
Flint, Jennifer L.& Jacobson, Jill D.. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia. Case Reports in Endocrinology No. 2013 (2013), pp.1-4.
https://search.emarefa.net/detail/BIM-468614
American Medical Association (AMA)
Flint, Jennifer L.& Jacobson, Jill D.. Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia. Case Reports in Endocrinology. 2013. Vol. 2013, no. 2013, pp.1-4.
https://search.emarefa.net/detail/BIM-468614
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-468614