2013
DOI: 10.1155/2013/393584
|View full text |Cite
|
Sign up to set email alerts
|

Adrenal Hypoplasia Congenita Presenting as Congenital Adrenal Hyperplasia

Abstract: 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 we… Show more

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
1
1
1

Citation Types

0
2
0
1

Year Published

2014
2014
2021
2021

Publication Types

Select...
5

Relationship

0
5

Authors

Journals

citations
Cited by 6 publications
(3 citation statements)
references
References 22 publications
(26 reference statements)
0
2
0
1
Order By: Relevance
“…A defect in DAX-1 gene was found on further investigation. 115…”
Section: Clinical Uses and Limitations Of 17-ohp Measurementsmentioning
confidence: 99%
“…A defect in DAX-1 gene was found on further investigation. 115…”
Section: Clinical Uses and Limitations Of 17-ohp Measurementsmentioning
confidence: 99%
“…There have been reports of patients with genetically confirmed AHC whose presentations and laboratory abnormalities were consistent with congenital adrenal hyperplasia, highlighting the importance of confirmatory testing in cases of unexplained adrenal insufficiency in neonates [14]. While previous publications have described adrenal insufficiency in infants with CDH perioperatively [1], this patient exhibited no symptoms until his third week of life.…”
Section: Discussionmentioning
confidence: 80%
“…• У пациентов с нетипичным течением ВДКН или развитием АГ рекомендуется проводить диагностику ГФ ВДКН путем комплексного определение концентрации стероидных гормонов методом тандемной масс-спектрометрии с исследованием уровня 11-дезоксикортизола в крови [1,4,6,178].…”
Section: диагностика дефицита 11β-гидроксилазыunclassified