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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| Format: | Article |
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Wiley
2013-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2013/393584 |
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| author | Jennifer L. Flint Jill D. Jacobson |
| author_facet | Jennifer L. Flint Jill D. Jacobson |
| author_sort | Jennifer L. Flint |
| collection | DOAJ |
| 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. |
| format | Article |
| id | doaj-art-496cc2e47839457cb828291b591bd5b6 |
| institution | Kabale University |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
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| series | Case Reports in Endocrinology |
| spelling | doaj-art-496cc2e47839457cb828291b591bd5b62025-02-03T01:10:28ZengWileyCase Reports in Endocrinology2090-65012090-651X2013-01-01201310.1155/2013/393584393584Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal HyperplasiaJennifer L. Flint0Jill D. Jacobson1Department of Pediatrics, Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USADivision of Endocrinology and Diabetes, Children's Mercy Hospitals and Clinics, University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USAWe 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.http://dx.doi.org/10.1155/2013/393584 |
| spellingShingle | Jennifer L. Flint Jill D. Jacobson Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia Case Reports in Endocrinology |
| 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 |
| url | http://dx.doi.org/10.1155/2013/393584 |
| work_keys_str_mv | AT jenniferlflint adrenalhypoplasiacongenitapresentingascongenitaladrenalhyperplasia AT jilldjacobson adrenalhypoplasiacongenitapresentingascongenitaladrenalhyperplasia |